Unser Literaturverzeichnis dient als Referenz zu den verwendeten Quellen unserer genetischen Analysen. Damit bieten wir Ihnen einen genauen Überblick über unsere verwendete Literatur und stehen Ihnen bei Fragen dazu selbstverständlich jederzeit zur Verfügung.
Analysierte Themenbereiche
TNF-a (rs1800629):
Dereka, X., Mardas, N., Chin, S., Petrie, A., & Donos, N. (2012). A systematic review on the association between genetic predisposition and dental implant biological complications. Clinical oral implants research, 23(7), 775–788. https://doi.org/10.1111/j.1600-0501.2011.02329.x
Jacobi-Gresser, E., Huesker, K., & Schütt, S. (2013). Genetic and immunological markers predict titanium implant failure: a retrospective study. International journal of oral and maxillofacial surgery, 42(4), 537–543. https://doi.org/10.1016/j.ijom.2012.07.018
Nikolopoulos, G. K., Dimou, N. L., Hamodrakas, S. J., & Bagos, P. G. (2008). Cytokine gene polymorphisms in periodontal disease: a meta-analysis of 53 studies including 4178 cases and 4590 controls. Journal of clinical periodontology, 35(9), 754–767. https://doi.org/10.1111/j.1600-051X.2008.01298.x
Wei, X. M., Chen, Y. J., Wu, L., Cui, L. J., Hu, D. W., & Zeng, X. T. (2016). Tumor necrosis factor-α G-308A (rs1800629) polymorphism and aggressive periodontitis susceptibility: a meta-analysis of 16 case-control studies. Scientific reports, 6, 19099. https://doi.org/10.1038/srep19099
IL6 (rs1800795):
Fishman, D., Faulds, G., Jeffery, R., Mohamed-Ali, V., Yudkin, J. S., Humphries, S., & Woo, P. (1998). The effect of novel polymorphisms in the interleukin-6 (IL-6) gene on IL-6 transcription and plasma IL-6 levels, and an association with systemic-onset juvenile chronic arthritis. The Journal of clinical investigation, 102(7), 1369–1376. https://doi.org/10.1172/JCI2629
Huth, C., Heid, I. M., Vollmert, C., Gieger, C., Grallert, H., Wolford, J. K., Langer, B., Thorand, B., Klopp, N., Hamid, Y. H., Pedersen, O., Hansen, T., Lyssenko, V., Groop, L., Meisinger, C., Döring, A., Löwel, H., Lieb, W., Hengstenberg, C., Rathmann, W., … Illig, T. (2006). IL6 gene promoter polymorphisms and type 2 diabetes: joint analysis of individual participants‘ data from 21 studies. Diabetes, 55(10), 2915–2921. https://doi.org/10.2337/db06-0600
Illig, T., Bongardt, F., Schöpfer, A., Müller-Scholze, S., Rathmann, W., Koenig, W., Thorand, B., Vollmert, C., Holle, R., Kolb, H., Herder, C., & Kooperative Gesundheitsforschung im Raum Augsburg/Cooperative Research in the Region of Augsburg (2004). Significant association of the interleukin-6 gene polymorphisms C-174G and A-598G with type 2 diabetes. The Journal of clinical endocrinology and metabolism, 89(10), 5053–5058. https://doi.org/10.1210/jc.2004-0355
IL1RN (rs195598):
Baradaran-Rahimi, H., Radvar, M., Arab, H. R., Tavakol-Afshari, J., & Ebadian, A. R. (2010). Association of interleukin-1 receptor antagonist gene polymorphisms with generalized aggressive periodontitis in an Iranian population. Journal of periodontology, 81(9), 1342–1346. https://doi.org/10.1902/jop.2010.100073
Braosi, A. P., de Souza, C. M., Luczyszyn, S. M., Dirschnabel, A. J., Claudino, M., Olandoski, M., Probst, C. M., Garlet, G. P., Pecoits-Filho, R., & Trevilatto, P. C. (2012). Analysis of IL1 gene polymorphisms and transcript levels in periodontal and chronic kidney disease. Cytokine, 60(1), 76–82. https://doi.org/10.1016/j.cyto.2012.06.006
Ciurla, A., Szymańska, J., Płachno, B. J., & Bogucka-Kocka, A. (2021). Polymorphisms of Encoding Genes IL1RN and P2RX7 in Apical Root Resorption in Patients after Orthodontic Treatment. International journal of molecular sciences, 22(2), 777. https://doi.org/10.3390/ijms22020777
Jacobi-Gresser, E., Huesker, K., & Schütt, S. (2013). Genetic and immunological markers predict titanium implant failure: a retrospective study. International journal of oral and maxillofacial surgery, 42(4), 537–543. https://doi.org/10.1016/j.ijom.2012.07.018
Komatsu, Y., Galicia, J. C., Kobayashi, T., Yamazaki, K., & Yoshie, H. (2008). Association of interleukin-1 receptor antagonist +2018 gene polymorphism with Japanese chronic periodontitis patients using a novel genotyping method. International journal of immunogenetics, 35(2), 165–170. https://doi.org/10.1111/j.1744-313X.2008.00757.x
Laine, M. L., Leonhardt, A., Roos-Jansåker, A. M., Peña, A. S., van Winkelhoff, A. J., Winkel, E. G., & Renvert, S. (2006). IL-1RN gene polymorphism is associated with peri-implantitis. Clinical oral implants research, 17(4), 380–385. https://doi.org/10.1111/j.1600-0501.2006.01249.x
Trevilatto, P. C., de Souza Pardo, A. P., Scarel-Caminaga, R. M., de Brito, R. B., Jr, Alvim-Pereira, F., Alvim-Pereira, C. C., Probst, C. M., Garlet, G. P., Sallum, A. W., & Line, S. R. (2011). Association of IL1 gene polymorphisms with chronic periodontitis in Brazilians. Archives of oral biology, 56(1), 54–62. https://doi.org/10.1016/j.archoralbio.2010.09.004
CRP (rs3093066):
Neubauer, O., König, D., & Wagner, K. H. (2008). Recovery after an Ironman triathlon: sustained inflammatory responses and muscular stress. European journal of applied physiology, 104(3), 417–426. https://doi.org/10.1007/s00421-008-0787-6
Obisesan, T. O., Leeuwenburgh, C., Phillips, T., Ferrell, R. E., Phares, D. A., Prior, S. J., & Hagberg, J. M. (2004). C-reactive protein genotypes affect baseline, but not exercise training-induced changes, in C-reactive protein levels. Arteriosclerosis, thrombosis, and vascular biology, 24(10), 1874–1879. https://doi.org/10.1161/01.ATV.0000140060.13203.22
Phillips, T., Childs, A. C., Dreon, D. M., Phinney, S., & Leeuwenburgh, C. (2003). A dietary supplement attenuates IL-6 and CRP after eccentric exercise in untrained males. Medicine and science in sports and exercise, 35(12), 2032–2037. https://doi.org/10.1249/01.MSS.0000099112.32342.10
IL6R (rs2228145):
Galicia, J. C., Tai, H., Komatsu, Y., Shimada, Y., Akazawa, K., & Yoshie, H. (2004). Polymorphisms in the IL-6 receptor (IL-6R) gene: strong evidence that serum levels of soluble IL-6R are genetically influenced. Genes and immunity, 5(6), 513–516. https://doi.org/10.1038/sj.gene.6364120
Gray, S. R., Clifford, M., Lancaster, R., Leggate, M., Davies, M., & Nimmo, M. A. (2009). The response of circulating levels of the interleukin-6/interleukin-6 receptor complex to exercise in young men. Cytokine, 47(2), 98–102. https://doi.org/10.1016/j.cyto.2009.05.011
Jones, S. A., Richards, P. J., Scheller, J., & Rose-John, S. (2005). IL-6 transsignaling: the in vivo consequences. Journal of interferon & cytokine research : the official journal of the International Society for Interferon and Cytokine Research, 25(5), 241–253. DOI: 10.1089/jir.2005.25.241
Pedersen, B. K., Steensberg, A., Fischer, C., Keller, C., Keller, P., Plomgaard, P., Wolsk-Petersen, E., & Febbraio, M. (2004). The metabolic role of IL-6 produced during exercise: is IL-6 an exercise factor?. The Proceedings of the Nutrition Society, 63(2), 263–267. https://doi.org/10.1079/PNS2004338
Reich, D., Patterson, N., Ramesh, V., De Jager, P. L., McDonald, G. J., Tandon, A., Choy, E., Hu, D., Tamraz, B., Pawlikowska, L., Wassel-Fyr, C., Huntsman, S., Waliszewska, A., Rossin, E., Li, R., Garcia, M., Reiner, A., Ferrell, R., Cummings, S., Kwok, P. Y., … Health, Aging and Body Composition (Health ABC) Study (2007). Admixture mapping of an allele affecting interleukin 6 soluble receptor and interleukin 6 levels. American journal of human genetics, 80(4), 716–726. https://doi.org/10.1086/513206
Robson-Ansley, P., Walshe, I., & Ward, D. (2011). The effect of carbohydrate ingestion on plasma interleukin-6, hepcidin and iron concentrations following prolonged exercise. Cytokine, 53(2), 196–200. https://doi.org/10.1016/j.cyto.2010.10.001
LCT (rs4988235):
Almon, R., Sjöström, M., & Nilsson, T. K. (2013). Lactase non-persistence as a determinant of milk avoidance and calcium intake in children and adolescents. Journal of nutritional science, 2, e26. https://doi.org/10.1017/jns.2013.11
Bácsi, K., Kósa, J. P., Lazáry, A., Balla, B., Horváth, H., Kis, A., Nagy, Z., Takács, I., Lakatos, P., & Speer, G. (2009). LCT 13910 C/T polymorphism, serum calcium, and bone mineral density in postmenopausal women. Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA, 20(4), 639–645. https://doi.org/10.1007/s00198-008-0709-9
Koek, W. N., van Meurs, J. B., van der Eerden, B. C., Rivadeneira, F., Zillikens, M. C., Hofman, A., Obermayer-Pietsch, B., Lips, P., Pols, H. A., Uitterlinden, A. G., & van Leeuwen, J. P. (2010). The T-13910C polymorphism in the lactase phlorizin hydrolase gene is associated with differences in serum calcium levels and calcium intake. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research, 25(9), 1980–1987. https://doi.org/10.1002/jbmr.83
Kuchay, R. A., Thapa, B. R., Mahmood, A., & Mahmood, S. (2011). Effect of C/T -13910 cis-acting regulatory variant on expression and activity of lactase in Indian children and its implication for early genetic screening of adult-type hypolactasia. Clinica chimica acta; international journal of clinical chemistry, 412(21-22), 1924–1930. https://doi.org/10.1016/j.cca.2011.06.032
Laaksonen, M. M., Mikkilä, V., Räsänen, L., Rontu, R., Lehtimäki, T. J., Viikari, J. S., Raitakari, O. T., & Cardiovascular Risk in Young Finns Study Group (2009). Genetic lactase non-persistence, consumption of milk products and intakes of milk nutrients in Finns from childhood to young adulthood. The British journal of nutrition, 102(1), 8–17. https://doi.org/10.1017/S0007114508184677
Tolonen, S., Laaksonen, M., Mikkilä, V., Sievänen, H., Mononen, N., Räsänen, L., Viikari, J., Raitakari, O. T., Kähönen, M., Lehtimäki, T. J., & Cardiovascular Risk in Young Finns Study Group (2011). Lactase gene c/t(-13910) polymorphism, calcium intake, and pQCT bone traits in Finnish adults. Calcified tissue international, 88(2), 153–161. https://doi.org/10.1007/s00223-010-9440-6
HFE (rs1800562), HFE (rs1799945):
Beutler, E., West, C., & Gelbart, T. (1997). HLA-H and associated proteins in patients with hemochromatosis. Molecular medicine (Cambridge, Mass.), 3(6), 397–402.
Carella, M., D’Ambrosio, L., Totaro, A., Grifa, A., Valentino, M. A., Piperno, A., Girelli, D., Roetto, A., Franco, B., Gasparini, P., & Camaschella, C. (1997). Mutation analysis of the HLA-H gene in Italian hemochromatosis patients. American journal of human genetics, 60(4), 828–832.
Jouanolle, A. M., Fergelot, P., Gandon, G., Yaouanq, J., Le Gall, J. Y., & David, V. (1997). A candidate gene for hemochromatosis: frequency of the C282Y and H63D mutations. Human genetics, 100(5-6), 544–547. https://doi.org/10.1007/s004390050549
Moirand, R., Deugnier, Y., & Brissot, P. (1999). Haemochromatosis and HFE gene. Acta gastro-enterologica Belgica, 62(4), 403–409.
Mura, C., Raguenes, O., & Férec, C. (1999). HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis. Blood, 93(8), 2502–2505.
Vujić M. (2014). Molecular basis of HFE-hemochromatosis. Frontiers in pharmacology, 5, 42. https://doi.org/10.3389/fphar.2014.00042
HFE (rs1800730):
Asberg, A., Thorstensen, K., Hveem, K., & Bjerve, K. S. (2002). Hereditary hemochromatosis: the clinical significance of the S65C mutation. Genetic testing, 6(1), 59–62. https://doi.org/10.1089/109065702760093933
Crownover, B. K., & Covey, C. J. (2013). Hereditary hemochromatosis. American family physician, 87(3), 183–190.
de Juan, D., Reta, A., Castiella, A., Pozueta, J., Prada, A., & Cuadrado, E. (2001). HFE gene mutations analysis in Basque hereditary haemochromatosis patients and controls. European journal of human genetics : EJHG, 9(12), 961–964. https://doi.org/10.1038/sj.ejhg.5200731
Wallace, D. F., Walker, A. P., Pietrangelo, A., Clare, M., Bomford, A. B., Dixon, J. L., Powell, L. W., Subramaniam, V. N., & Dooley, J. S. (2002). Frequency of the S65C mutation of HFE and iron overload in 309 subjects heterozygous for C282Y. Journal of hepatology, 36(4), 474–479. https://doi.org/10.1016/s0168-8278(01)00304-x
VDR rs1544410:
Creatsa, M., Pliatsika, P., Kaparos, G., Antoniou, A., Armeni, E., Tsakonas, E., Panoulis, C., Alexandrou, A., Dimitraki, E., Christodoulakos, G., & Lambrinoudaki, I. (2011). The effect of vitamin D receptor BsmI genotype on the response to osteoporosis treatment in postmenopausal women: a pilot study. The journal of obstetrics and gynaecology research, 37(10), 1415–1422. https://doi.org/10.1111/j.1447-0756.2011.01557.x
Jia, F., Sun, R. F., Li, Q. H., Wang, D. X., Zhao, F., Li, J. M., Pu, Q., Zhang, Z. Z., Jin, Y., Liu, B. L., & Xiong, Y. (2013). Vitamin D receptor BsmI polymorphism and osteoporosis risk: a meta-analysis from 26 studies. Genetic testing and molecular biomarkers, 17(1), 30–34. https://doi.org/10.1089/gtmb.2012.0267
Marc, J., Prezelj, J., Komel, R., & Kocijancic, A. (1999). VDR genotype and response to etidronate therapy in late postmenopausal women. Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA, 10(4), 303–306. https://doi.org/10.1007/s001980050231
Mossetti, G., Gennari, L., Rendina, D., De Filippo, G., Merlotti, D., De Paola, V., Fusco, P., Esposito, T., Gianfrancesco, F., Martini, G., Nuti, R., & Strazzullo, P. (2008). Vitamin D receptor gene polymorphisms predict acquired resistance to clodronate treatment in patients with Paget’s disease of bone. Calcified tissue international, 83(6), 414–424. https://doi.org/10.1007/s00223-008-9193-7
Palomba, S., Orio, F., Jr, Russo, T., Falbo, A., Tolino, A., Manguso, F., Nunziata, V., Mastrantonio, P., Lombardi, G., & Zullo, F. (2005). BsmI vitamin D receptor genotypes influence the efficacy of antiresorptive treatments in postmenopausal osteoporotic women. A 1-year multicenter, randomized and controlled trial. Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA, 16(8), 943–952. https://doi.org/10.1007/s00198-004-1800-5
Palomba, S., Numis, F. G., Mossetti, G., Rendina, D., Vuotto, P., Russo, T., Zullo, F., Nappi, C., & Nunziata, V. (2003). Raloxifene administration in post-menopausal women with osteoporosis: effect of different BsmI vitamin D receptor genotypes. Human reproduction (Oxford, England), 18(1), 192–198. https://doi.org/10.1093/humrep/deg031
APOA1 (rs670):
Angotti, E., Mele, E., Costanzo, F., & Avvedimento, E. V. (1994). A polymorphism (G–>A transition) in the -78 position of the apolipoprotein A-I promoter increases transcription efficiency. The Journal of biological chemistry, 269(26), 17371–17374.
Juo, S. H., Wyszynski, D. F., Beaty, T. H., Huang, H. Y., & Bailey-Wilson, J. E. (1999). Mild association between the A/G polymorphism in the promoter of the apolipoprotein A-I gene and apolipoprotein A-I levels: a meta-analysis. American journal of medical genetics, 82(3), 235–241.
Mata, P., Lopez-Miranda, J., Pocovi, M., Alonso, R., Lahoz, C., Marin, C., Garces, C., Cenarro, A., Perez-Jimenez, F., de Oya, M., & Ordovas, J. M. (1998). Human apolipoprotein A-I gene promoter mutation influences plasma low density lipoprotein cholesterol response to dietary fat saturation. Atherosclerosis, 137(2), 367–376. https://doi.org/10.1016/s0021-9150(97)00265-7
Miles, R. R., Perry, W., Haas, J. V., Mosior, M. K., N’Cho, M., Wang, J. W., Yu, P., Calley, J., Yue, Y., Carter, Q., Han, B., Foxworthy, P., Kowala, M. C., Ryan, T. P., Solenberg, P. J., & Michael, L. F. (2013). Genome-wide screen for modulation of hepatic apolipoprotein A-I (ApoA-I) secretion. The Journal of biological chemistry, 288(9), 6386–6396. https://doi.org/10.1074/jbc.M112.410092
Ordovas, J. M., Corella, D., Cupples, L. A., Demissie, S., Kelleher, A., Coltell, O., Wilson, P. W., Schaefer, E. J., & Tucker, K. (2002). Polyunsaturated fatty acids modulate the effects of the APOA1 G-A polymorphism on HDL-cholesterol concentrations in a sex-specific manner: the Framingham Study. The American journal of clinical nutrition, 75(1), 38–46. https://doi.org/10.1093/ajcn/75.1.38
Ordovas J. M. (2002). Gene-diet interaction and plasma lipid responses to dietary intervention. Biochemical Society transactions, 30(2), 68–73.
Ruaño, G., Seip, R. L., Windemuth, A., Zöllner, S., Tsongalis, G. J., Ordovas, J., Otvos, J., Bilbie, C., Miles, M., Zoeller, R., Visich, P., Gordon, P., Angelopoulos, T. J., Pescatello, L., Moyna, N., & Thompson, P. D. (2006). Apolipoprotein A1 genotype affects the change in high density lipoprotein cholesterol subfractions with exercise training. Atherosclerosis, 185(1), 65–69. https://doi.org/10.1016/j.atherosclerosis.2005.05.029
Rudkowska, I., Dewailly, E., Hegele, R. A., Boiteau, V., Dubé-Linteau, A., Abdous, B., Giguere, Y., Chateau-Degat, M. L., & Vohl, M. C. (2013). Gene-diet interactions on plasma lipid levels in the Inuit population. The British journal of nutrition, 109(5), 953–961. https://doi.org/10.1017/S0007114512002231
AGT (rs699):
Corvol, P., & Jeunemaitre, X. (1997). Molecular genetics of human hypertension: role of angiotensinogen. Endocrine reviews, 18(5), 662–677. https://doi.org/10.1210/edrv.18.5.0312
Hunt, S. C., Cook, N. R., Oberman, A., Cutler, J. A., Hennekens, C. H., Allender, P. S., Walker, W. G., Whelton, P. K., & Williams, R. R. (1998). Angiotensinogen genotype, sodium reduction, weight loss, and prevention of hypertension: trials of hypertension prevention, phase II. Hypertension (Dallas, Tex. : 1979), 32(3), 393–401. https://doi.org/10.1161/01.hyp.32.3.393
Jeunemaitre, X., Soubrier, F., Kotelevtsev, Y. V., Lifton, R. P., Williams, C. S., Charru, A., Hunt, S. C., Hopkins, P. N., Williams, R. R., & Lalouel, J. M. (1992). Molecular basis of human hypertension: role of angiotensinogen. Cell, 71(1), 169–180. https://doi.org/10.1016/0092-8674(92)90275-h
Nakajima, T., Jorde, L. B., Ishigami, T., Umemura, S., Emi, M., Lalouel, J. M., & Inoue, I. (2002). Nucleotide diversity and haplotype structure of the human angiotensinogen gene in two populations. American journal of human genetics, 70(1), 108–123. https://doi.org/10.1086/338454
Norat, T., Bowman, R., Luben, R., Welch, A., Khaw, K. T., Wareham, N., & Bingham, S. (2008). Blood pressure and interactions between the angiotensin polymorphism AGT M235T and sodium intake: a cross-sectional population study. The American journal of clinical nutrition, 88(2), 392–397. https://doi.org/10.1093/ajcn/88.2.392
Svetkey, L. P., Moore, T. J., Simons-Morton, D. G., Appel, L. J., Bray, G. A., Sacks, F. M., Ard, J. D., Mortensen, R. M., Mitchell, S. R., Conlin, P. R., Kesari, M., & DASH collaborative research group (2001). Angiotensinogen genotype and blood pressure response in the Dietary Approaches to Stop Hypertension (DASH) study. Journal of hypertension, 19(11), 1949–1956. https://doi.org/10.1097/00004872-200111000-00004
GSTP1 (rs1695):
Rahbar, M. H., Samms-Vaughan, M., Saroukhani, S., Bressler, J., Hessabi, M., Grove, M. L., Shakspeare-Pellington, S., Loveland, K. A., Beecher, C., & McLaughlin, W. (2021). Associations of Metabolic Genes (GSTT1, GSTP1, GSTM1) and Blood Mercury Concentrations Differ in Jamaican Children with and without Autism Spectrum Disorder. International journal of environmental research and public health, 18(4), 1377. https://doi.org/10.3390/ijerph18041377
Rahbar, M. H., Samms-Vaughan, M., Pitcher, M. R., Bressler, J., Hessabi, M., Loveland, K. A., Christian, M. A., Grove, M. L., Shakespeare-Pellington, S., Beecher, C., McLaughlin, W., & Boerwinkle, E. (2016). Role of Metabolic Genes in Blood Aluminum Concentrations of Jamaican Children with and without Autism Spectrum Disorder. International journal of environmental research and public health, 13(11), 1095. https://doi.org/10.3390/ijerph13111095
Saad-Hussein, A., Noshy, M., Taha, M., El-Shorbagy, H., Shahy, E., & Abdel-Shafy, E. A. (2017). GSTP1 and XRCC1 polymorphisms and DNA damage in agricultural workers exposed to pesticides. Mutation research. Genetic toxicology and environmental mutagenesis, 819, 20–25. https://doi.org/10.1016/j.mrgentox.2017.05.005
Singh, S., Kumar, V., Singh, P., Thakur, S., Banerjee, B. D., Rautela, R. S., Grover, S. S., Rawat, D. S., Pasha, S. T., Jain, S. K., & Rai, A. (2011). Genetic polymorphisms of GSTM1, GSTT1 and GSTP1 and susceptibility to DNA damage in workers occupationally exposed to organophosphate pesticides. Mutation research, 725(1-2), 36–42. https://doi.org/10.1016/j.mrgentox.2011.06.006
Valeeva, E. T., Mukhammadiyeva, G. F., & Bakirov, A. B. (2020). Polymorphism of Glutathione S-transferase Genes and the Risk of Toxic Liver Damage in Petrochemical Workers. The international journal of occupational and environmental medicine, 11(1), 53–58. https://doi.org/10.15171/ijoem.2020.1771
Wong, R. H., Chang, S. Y., Ho, S. W., Huang, P. L., Liu, Y. J., Chen, Y. C., Yeh, Y. H., & Lee, H. S. (2008). Polymorphisms in metabolic GSTP1 and DNA-repair XRCC1 genes with an increased risk of DNA damage in pesticide-exposed fruit growers. Mutation research, 654(2), 168–175. https://doi.org/10.1016/j.mrgentox.2008.06.005
GSTM1 (Null-Allel):
Aliomrani, M., Sahraian, M. A., Shirkhanloo, H., Sharifzadeh, M., Khoshayand, M. R., & Ghahremani, M. H. (2017). Correlation between heavy metal exposure and GSTM1 polymorphism in Iranian multiple sclerosis patients. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 38(7), 1271–1278. https://doi.org/10.1007/s10072-017-2934-5
Barrón Cuenca, J., Tirado, N., Barral, J., Ali, I., Levi, M., Stenius, U., Berglund, M., & Dreij, K. (2019). Increased levels of genotoxic damage in a Bolivian agricultural population exposed to mixtures of pesticides. The Science of the total environment, 695, 133942. https://doi.org/10.1016/j.scitotenv.2019.133942
de Oliveira, A. Á., de Souza, M. F., Lengert, A.v, de Oliveira, M. T., Camargo, R. B., Braga, G. Ú., Cólus, I. M., Barbosa, F., Jr, & Barcelos, G. R. (2014). Genetic polymorphisms in glutathione (GSH-) related genes affect the plasmatic Hg/whole blood Hg partitioning and the distribution between inorganic and methylmercury levels in plasma collected from a fish-eating population. BioMed research international, 2014, 940952. https://doi.org/10.1155/2014/940952
Doukali, H., Ben Salah, G., Hamdaoui, L., Hajjaji, M., Tabebi, M., Ammar-Keskes, L., Masmoudi, M. E., & Kamoun, H. (2017). Oxidative stress and glutathione S-transferase genetic polymorphisms in medical staff professionally exposed to ionizing radiation. International journal of radiation biology, 93(7), 697–704. https://doi.org/10.1080/09553002.2017.1305132
Ghelli, F., Bellisario, V., Squillacioti, G., Panizzolo, M., Santovito, A., & Bono, R. (2021). Formaldehyde in Hospitals Induces Oxidative Stress: The Role of GSTT1 and GSTM1 Polymorphisms. Toxics, 9(8), 178. https://doi.org/10.3390/toxics9080178
Lee, J. U., Jeong, J. Y., Kim, M. K., Min, S. A., Park, J. S., & Park, C. S. (2022). Association of GSTM1 and GSTT1 Null Genotypes with Toluene Diisocyanate-Induced Asthma. Canadian respiratory journal, 2022, 7977937. https://doi.org/10.1155/2022/7977937
Santillán-Sidón, P., Pérez-Morales, R., Anguiano, G., Ruiz-Baca, E., Osten, J. R., Olivas-Calderón, E., & Vazquez-Boucard, C. (2020). Glutathione S-transferase activity and genetic polymorphisms associated with exposure to organochloride pesticides in Todos Santos, BCS, Mexico: a preliminary study. Environmental science and pollution research international, 27(34), 43223–43232. https://doi.org/10.1007/s11356-020-10206-3
Sharma, T., Banerjee, B. D., Thakur, G. K., Guleria, K., & Mazumdar, D. (2019). Polymorphism of xenobiotic metabolizing gene and susceptibility of epithelial ovarian cancer with reference to organochlorine pesticides exposure. Experimental biology and medicine (Maywood, N.J.), 244(16), 1446–1453. https://doi.org/10.1177/1535370219878652
Sirivarasai, J., Wananukul, W., Kaojarern, S., Chanprasertyothin, S., Thongmung, N., Ratanachaiwong, W., Sura, T., & Sritara, P. (2013). Association between inflammatory marker, environmental lead exposure, and glutathione S-transferase gene. BioMed research international, 2013, 474963. https://doi.org/10.1155/2013/474963
Singh, S., Kumar, V., Singh, P., Banerjee, B. D., Rautela, R. S., Grover, S. S., Rawat, D. S., Pasha, S. T., Jain, S. K., & Rai, A. (2012). Influence of CYP2C9, GSTM1, GSTT1 and NAT2 genetic polymorphisms on DNA damage in workers occupationally exposed to organophosphate pesticides. Mutation research, 741(1-2), 101–108. https://doi.org/10.1016/j.mrgentox.2011.11.001
Tang, J. J., Wang, M. W., Jia, E. Z., Yan, J. J., Wang, Q. M., Zhu, J., Yang, Z. J., Lu, X., & Wang, L. S. (2010). The common variant in the GSTM1 and GSTT1 genes is related to markers of oxidative stress and inflammation in patients with coronary artery disease: a case-only study. Molecular biology reports, 37(1), 405–410. https://doi.org/10.1007/s11033-009-9877-8
GSTT1 (Null-Allel):
Ahluwalia, M., & Kaur, A. (2018). Modulatory role of GSTT1 and GSTM1 in Punjabi agricultural workers exposed to pesticides. Environmental science and pollution research international, 25(12), 11981–11986. https://doi.org/10.1007/s11356-018-1459-7
Doukali, H., Ben Salah, G., Hamdaoui, L., Hajjaji, M., Tabebi, M., Ammar-Keskes, L., Masmoudi, M. E., & Kamoun, H. (2017). Oxidative stress and glutathione S-transferase genetic polymorphisms in medical staff professionally exposed to ionizing radiation. International journal of radiation biology, 93(7), 697–704. https://doi.org/10.1080/09553002.2017.1305132
Ercegovac, M., Jovic, N., Sokic, D., Savic-Radojevic, A., Coric, V., Radic, T., Nikolic, D., Kecmanovic, M., Matic, M., Simic, T., & Pljesa-Ercegovac, M. (2015). GSTA1, GSTM1, GSTP1 and GSTT1 polymorphisms in progressive myoclonus epilepsy: A Serbian case-control study. Seizure, 32, 30–36. https://doi.org/10.1016/j.seizure.2015.08.010
Ghelli, F., Bellisario, V., Squillacioti, G., Panizzolo, M., Santovito, A., & Bono, R. (2021). Formaldehyde in Hospitals Induces Oxidative Stress: The Role of GSTT1 and GSTM1 Polymorphisms. Toxics, 9(8), 178. https://doi.org/10.3390/toxics9080178
Goodrich, J. M., Wang, Y., Gillespie, B., Werner, R., Franzblau, A., & Basu, N. (2011). Glutathione enzyme and selenoprotein polymorphisms associate with mercury biomarker levels in Michigan dental professionals. Toxicology and applied pharmacology, 257(2), 301–308. https://doi.org/10.1016/j.taap.2011.09.014
Sharma, T., Banerjee, B. D., Thakur, G. K., Guleria, K., & Mazumdar, D. (2019). Polymorphism of xenobiotic metabolizing gene and susceptibility of epithelial ovarian cancer with reference to organochlorine pesticides exposure. Experimental biology and medicine (Maywood, N.J.), 244(16), 1446–1453. https://doi.org/10.1177/1535370219878652
Sun, B., Song, J., Wang, Y., Jiang, J., An, Z., Li, J., Zhang, Y., Wang, G., Li, H., Alexis, N. E., Jaspers, I., & Wu, W. (2021). Associations of short-term PM2.5 exposures with nasal oxidative stress, inflammation and lung function impairment and modification by GSTT1-null genotype: A panel study of the retired adults. Environmental pollution (Barking, Essex : 1987), 285, 117215. https://doi.org/10.1016/j.envpol.2021.117215
Tahir, M., Rehman, M. Y. A., & Malik, R. N. (2021). Heavy metal-associated oxidative stress and glutathione S-transferase polymorphisms among E-waste workers in Pakistan. Environmental geochemistry and health, 43(11), 4441–4458. https://doi.org/10.1007/s10653-021-00926-x
Tang, J. J., Wang, M. W., Jia, E. Z., Yan, J. J., Wang, Q. M., Zhu, J., Yang, Z. J., Lu, X., & Wang, L. S. (2010). The common variant in the GSTM1 and GSTT1 genes is related to markers of oxidative stress and inflammation in patients with coronary artery disease: a case-only study. Molecular biology reports, 37(1), 405–410. https://doi.org/10.1007/s11033-009-9877-8
Yohannes, Y. B., Nakayama, S. M. M., Yabe, J., Toyomaki, H., Kataba, A., Nakata, H., Muzandu, K., Ikenaka, Y., Choongo, K., & Ishizuka, M. (2022). Glutathione S-transferase gene polymorphisms in association with susceptibility to lead toxicity in lead- and cadmium-exposed children near an abandoned lead-zinc mining area in Kabwe, Zambia. Environmental science and pollution research international, 29(5), 6622–6632. https://doi.org/10.1007/s11356-021-16098-1
CYP1A1 (rs1048943) / (rs4646903):
Abbas, M., Srivastava, K., Imran, M., & Banerjee, M. (2014). Association of CYP1A1 gene variants rs4646903 (T>C) and rs1048943 (A>G) with cervical cancer in a North Indian population. European journal of obstetrics, gynecology, and reproductive biology, 176, 68–74. https://doi.org/10.1016/j.ejogrb.2014.02.036
Cosma, G., Crofts, F., Taioli, E., Toniolo, P., & Garte, S. (1993). Relationship between genotype and function of the human CYP1A1 gene. Journal of toxicology and environmental health, 40(2-3), 309–316. https://doi.org/10.1080/15287399309531796
Hou, L., Chatterjee, N., Huang, W. Y., Baccarelli, A., Yadavalli, S., Yeager, M., Bresalier, R. S., Chanock, S. J., Caporaso, N. E., Ji, B. T., Weissfeld, J. L., & Hayes, R. B. (2005). CYP1A1 Val462 and NQO1 Ser187 polymorphisms, cigarette use, and risk for colorectal adenoma. Carcinogenesis, 26(6), 1122–1128. https://doi.org/10.1093/carcin/bgi054
Islam, M. S., Ahmed, M. U., Sayeed, M. S., Maruf, A. A., Mostofa, A. G., Hussain, S. M., Kabir, Y., Daly, A. K., & Hasnat, A. (2013). Lung cancer risk in relation to nicotinic acetylcholine receptor, CYP2A6 and CYP1A1 genotypes in the Bangladeshi population. Clinica chimica acta; international journal of clinical chemistry, 416, 11–19. https://doi.org/10.1016/j.cca.2012.11.011
Ji, Y. N., Wang, Q., & Suo, L. J. (2012). CYP1A1 Ile462Val polymorphism contributes to lung cancer susceptibility among lung squamous carcinoma and smokers: a meta-analysis. PloS one, 7(8), e43397. https://doi.org/10.1371/journal.pone.0043397
Naif, H. M., Al-Obaide, M. A. I., Hassani, H. H., Hamdan, A. S., & Kalaf, Z. S. (2018). Association of Cytochrome CYP1A1 Gene Polymorphisms and Tobacco Smoking With the Risk of Breast Cancer in Women From Iraq. Frontiers in public health, 6, 96. https://doi.org/10.3389/fpubh.2018.00096
Roszak, A., Lianeri, M., Sowińska, A., & Jagodziński, P. P. (2014). CYP1A1 Ile462Val polymorphism as a risk factor in cervical cancer development in the Polish population. Molecular diagnosis & therapy, 18(4), 445–450. https://doi.org/10.1007/s40291-014-0095-2
Sabitha, K., Reddy, M. V., & Jamil, K. (2010). Smoking related risk involved in individuals carrying genetic variants of CYP1A1 gene in head and neck cancer. Cancer epidemiology, 34(5), 587–592. https://doi.org/10.1016/j.canep.2010.05.002
Sengupta, D., Banerjee, S., Mukhopadhyay, P., Mitra, R., Chaudhuri, T., Sarkar, A., Bhattacharjee, G., Nath, S., Roychoudhury, S., Bhattacharjee, S., & Sengupta, M. (2021). A comprehensive meta-analysis and a case-control study give insights into genetic susceptibility of lung cancer and subgroups. Scientific reports, 11(1), 14572. https://doi.org/10.1038/s41598-021-92275-z
CYP1B1 (rs1056836):
Butts, S. F., Sammel, M. D., Greer, C., Rebbeck, T. R., Boorman, D. W., & Freeman, E. W. (2014). Cigarettes, genetic background, and menopausal timing: the presence of single nucleotide polymorphisms in cytochrome P450 genes is associated with increased risk of natural menopause in European-American smokers. Menopause (New York, N.Y.), 21(7), 694–701. https://doi.org/10.1097/GME.0000000000000140
Butts, S. F., Freeman, E. W., Sammel, M. D., Queen, K., Lin, H., & Rebbeck, T. R. (2012). Joint effects of smoking and gene variants involved in sex steroid metabolism on hot flashes in late reproductive-age women. The Journal of clinical endocrinology and metabolism, 97(6), E1032–E1042. https://doi.org/10.1210/jc.2011-2216
Chen, B., Qiu, L. X., Li, Y., Xu, W., Wang, X. L., Zhao, W. H., & Wu, J. Q. (2010). The CYP1B1 Leu432Val polymorphism contributes to lung cancer risk: evidence from 6501 subjects. Lung cancer (Amsterdam, Netherlands), 70(3), 247–252. https://doi.org/10.1016/j.lungcan.2010.03.011
Cote, M. L., Yoo, W., Wenzlaff, A. S., Prysak, G. M., Santer, S. K., Claeys, G. B., Van Dyke, A. L., Land, S. J., & Schwartz, A. G. (2009). Tobacco and estrogen metabolic polymorphisms and risk of non-small cell lung cancer in women. Carcinogenesis, 30(4), 626–635. https://doi.org/10.1093/carcin/bgp033
Ko, Y., Abel, J., Harth, V., Bröde, P., Antony, C., Donat, S., Fischer, H. P., Ortiz-Pallardo, M. E., Thier, R., Sachinidis, A., Vetter, H., Bolt, H. M., Herberhold, C., & Brüning, T. (2001). Association of CYP1B1 codon 432 mutant allele in head and neck squamous cell cancer is reflected by somatic mutations of p53 in tumor tissue. Cancer research, 61(11), 4398–4404.
Liang, G., Pu, Y., & Yin, L. (2005). Rapid detection of single nucleotide polymorphisms related with lung cancer susceptibility of Chinese population. Cancer letters, 223(2), 265–274. https://doi.org/10.1016/j.canlet.2004.12.042
Liu, F., Luo, L. M., Wei, Y. G., Li, B., Wang, W. T., Wen, T. F., Yang, J. Y., Xu, M. Q., & Yan, L. N. (2015). Polymorphisms of the CYP1B1 gene and hepatocellular carcinoma risk in a Chinese population. Gene, 564(1), 14–20. https://doi.org/10.1016/j.gene.2015.03.035
Lopes, B. A., Emerenciano, M., Gonçalves, B. A., Vieira, T. M., Rossini, A., & Pombo-de-Oliveira, M. S. (2015). Polymorphisms in CYP1B1, CYP3A5, GSTT1, and SULT1A1 Are Associated with Early Age Acute Leukemia. PloS one, 10(5), e0127308. https://doi.org/10.1371/journal.pone.0127308
Nock, N. L., Tang, D., Rundle, A., Neslund-Dudas, C., Savera, A. T., Bock, C. H., Monaghan, K. G., Koprowski, A., Mitrache, N., Yang, J. J., & Rybicki, B. A. (2007). Associations between smoking, polymorphisms in polycyclic aromatic hydrocarbon (PAH) metabolism and conjugation genes and PAH-DNA adducts in prostate tumors differ by race. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology, 16(6), 1236–1245. https://doi.org/10.1158/1055-9965.EPI-06-0736
Sillanpää, P., Heikinheimo, L., Kataja, V., Eskelinen, M., Kosma, V. M., Uusitupa, M., Vainio, H., Metsola, K., & Hirvonen, A. (2007). CYP1A1 and CYP1B1 genetic polymorphisms, smoking and breast cancer risk in a Finnish Caucasian population. Breast cancer research and treatment, 104(3), 287–297. https://doi.org/10.1007/s10549-006-9414-6
Timofeeva, M. N., Kropp, S., Sauter, W., Beckmann, L., Rosenberger, A., Illig, T., Jäger, B., Mittelstrass, K., Dienemann, H., LUCY-Consortium, Bartsch, H., Bickeböller, H., Chang-Claude, J. C., Risch, A., & Wichmann, H. E. (2009). CYP450 polymorphisms as risk factors for early-onset lung cancer: gender-specific differences. Carcinogenesis, 30(7), 1161–1169. https://doi.org/10.1093/carcin/bgp102
GPX1 (rs1050450):
Bhatti, P., Stewart, P. A., Hutchinson, A., Rothman, N., Linet, M. S., Inskip, P. D., & Rajaraman, P. (2009). Lead exposure, polymorphisms in genes related to oxidative stress, and risk of adult brain tumors. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology, 18(6), 1841–1848. https://doi.org/10.1158/1055-9965.EPI-09-0197
Chen, J., Cao, Q., Qin, C., Shao, P., Wu, Y., Wang, M., Zhang, Z., & Yin, C. (2011). GPx-1 polymorphism (rs1050450) contributes to tumor susceptibility: evidence from meta-analysis. Journal of cancer research and clinical oncology, 137(10), 1553–1561. https://doi.org/10.1007/s00432-011-1033-x
Combs, G. F., Jr, Jackson, M. I., Watts, J. C., Johnson, L. K., Zeng, H., Idso, J., Schomburg, L., Hoeg, A., Hoefig, C. S., Chiang, E. C., Waters, D. J., Davis, C. D., & Milner, J. A. (2012). Differential responses to selenomethionine supplementation by sex and genotype in healthy adults. The British journal of nutrition, 107(10), 1514–1525. https://doi.org/10.1017/S0007114511004715
Cominetti, C., de Bortoli, M. C., Purgatto, E., Ong, T. P., Moreno, F. S., Garrido, A. B., Jr, & Cozzolino, S. M. (2011). Associations between glutathione peroxidase-1 Pro198Leu polymorphism, selenium status, and DNA damage levels in obese women after consumption of Brazil nuts. Nutrition (Burbank, Los Angeles County, Calif.), 27(9), 891–896. https://doi.org/10.1016/j.nut.2010.09.003
Hong, Z., Tian, C., & Zhang, X. (2013). GPX1 gene Pro200Leu polymorphism, erythrocyte GPX activity, and cancer risk. Molecular biology reports, 40(2), 1801–1812. https://doi.org/10.1007/s11033-012-2234-3
Jablonska, E., Gromadzinska, J., Reszka, E., Wasowicz, W., Sobala, W., Szeszenia-Dabrowska, N., & Boffetta, P. (2009). Association between GPx1 Pro198Leu polymorphism, GPx1 activity and plasma selenium concentration in humans. European journal of nutrition, 48(6), 383–386. https://doi.org/10.1007/s00394-009-0023-0
Karunasinghe, N., Han, D. Y., Zhu, S., Yu, J., Lange, K., Duan, H., Medhora, R., Singh, N., Kan, J., Alzaher, W., Chen, B., Ko, S., Triggs, C. M., & Ferguson, L. R. (2012). Serum selenium and single-nucleotide polymorphisms in genes for selenoproteins: relationship to markers of oxidative stress in men from Auckland, New Zealand. Genes & nutrition, 7(2), 179–190. https://doi.org/10.1007/s12263-011-0259-1
Miller, J. C., Thomson, C. D., Williams, S. M., van Havre, N., Wilkins, G. T., Morison, I. M., Ludgate, J. L., & Skeaff, C. M. (2012). Influence of the glutathione peroxidase 1 Pro200Leu polymorphism on the response of glutathione peroxidase activity to selenium supplementation: a randomized controlled trial. The American journal of clinical nutrition, 96(4), 923–931. https://doi.org/10.3945/ajcn.112.043125
Steinbrecher, A., Méplan, C., Hesketh, J., Schomburg, L., Endermann, T., Jansen, E., Akesson, B., Rohrmann, S., & Linseisen, J. (2010). Effects of selenium status and polymorphisms in selenoprotein genes on prostate cancer risk in a prospective study of European men. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology, 19(11), 2958–2968. https://doi.org/10.1158/1055-9965.EPI-10-0364
Soerensen, M., Christensen, K., Stevnsner, T., & Christiansen, L. (2009). The Mn-superoxide dismutase single nucleotide polymorphism rs4880 and the glutathione peroxidase 1 single nucleotide polymorphism rs1050450 are associated with aging and longevity in the oldest old. Mechanisms of ageing and development, 130(5), 308–314. https://doi.org/10.1016/j.mad.2009.01.005
Tang, T. S., Prior, S. L., Li, K. W., Ireland, H. A., Bain, S. C., Hurel, S. J., Cooper, J. A., Humphries, S. E., & Stephens, J. W. (2012). Association between the rs1050450 glutathione peroxidase-1 (C > T) gene variant and peripheral neuropathy in two independent samples of subjects with diabetes mellitus. Nutrition, metabolism, and cardiovascular diseases : NMCD, 22(5), 417–425. https://doi.org/10.1016/j.numecd.2010.08.001
Xiong, Y. M., Mo, X. Y., Zou, X. Z., Song, R. X., Sun, W. Y., Lu, W., Chen, Q., Yu, Y. X., & Zang, W. J. (2010). Association study between polymorphisms in selenoprotein genes and susceptibility to Kashin-Beck disease. Osteoarthritis and cartilage, 18(6), 817–824. https://doi.org/10.1016/j.joca.2010.02.004
GSTT1 (Null-Allel):
Ahluwalia, M., & Kaur, A. (2018). Modulatory role of GSTT1 and GSTM1 in Punjabi agricultural workers exposed to pesticides. Environmental science and pollution research international, 25(12), 11981–11986. https://doi.org/10.1007/s11356-018-1459-7
Doukali, H., Ben Salah, G., Hamdaoui, L., Hajjaji, M., Tabebi, M., Ammar-Keskes, L., Masmoudi, M. E., & Kamoun, H. (2017). Oxidative stress and glutathione S-transferase genetic polymorphisms in medical staff professionally exposed to ionizing radiation. International journal of radiation biology, 93(7), 697–704. https://doi.org/10.1080/09553002.2017.1305132
Ercegovac, M., Jovic, N., Sokic, D., Savic-Radojevic, A., Coric, V., Radic, T., Nikolic, D., Kecmanovic, M., Matic, M., Simic, T., & Pljesa-Ercegovac, M. (2015). GSTA1, GSTM1, GSTP1 and GSTT1 polymorphisms in progressive myoclonus epilepsy: A Serbian case-control study. Seizure, 32, 30–36. https://doi.org/10.1016/j.seizure.2015.08.010
Ghelli, F., Bellisario, V., Squillacioti, G., Panizzolo, M., Santovito, A., & Bono, R. (2021). Formaldehyde in Hospitals Induces Oxidative Stress: The Role of GSTT1 and GSTM1 Polymorphisms. Toxics, 9(8), 178. https://doi.org/10.3390/toxics9080178
Goodrich, J. M., Wang, Y., Gillespie, B., Werner, R., Franzblau, A., & Basu, N. (2011). Glutathione enzyme and selenoprotein polymorphisms associate with mercury biomarker levels in Michigan dental professionals. Toxicology and applied pharmacology, 257(2), 301–308. https://doi.org/10.1016/j.taap.2011.09.014
Sharma, T., Banerjee, B. D., Thakur, G. K., Guleria, K., & Mazumdar, D. (2019). Polymorphism of xenobiotic metabolizing gene and susceptibility of epithelial ovarian cancer with reference to organochlorine pesticides exposure. Experimental biology and medicine (Maywood, N.J.), 244(16), 1446–1453. https://doi.org/10.1177/1535370219878652
Sun, B., Song, J., Wang, Y., Jiang, J., An, Z., Li, J., Zhang, Y., Wang, G., Li, H., Alexis, N. E., Jaspers, I., & Wu, W. (2021). Associations of short-term PM2.5 exposures with nasal oxidative stress, inflammation and lung function impairment and modification by GSTT1-null genotype: A panel study of the retired adults. Environmental pollution (Barking, Essex : 1987), 285, 117215. https://doi.org/10.1016/j.envpol.2021.117215
Tahir, M., Rehman, M. Y. A., & Malik, R. N. (2021). Heavy metal-associated oxidative stress and glutathione S-transferase polymorphisms among E-waste workers in Pakistan. Environmental geochemistry and health, 43(11), 4441–4458. https://doi.org/10.1007/s10653-021-00926-x
Tang, J. J., Wang, M. W., Jia, E. Z., Yan, J. J., Wang, Q. M., Zhu, J., Yang, Z. J., Lu, X., & Wang, L. S. (2010). The common variant in the GSTM1 and GSTT1 genes is related to markers of oxidative stress and inflammation in patients with coronary artery disease: a case-only study. Molecular biology reports, 37(1), 405–410. https://doi.org/10.1007/s11033-009-9877-8
Yohannes, Y. B., Nakayama, S. M. M., Yabe, J., Toyomaki, H., Kataba, A., Nakata, H., Muzandu, K., Ikenaka, Y., Choongo, K., & Ishizuka, M. (2022). Glutathione S-transferase gene polymorphisms in association with susceptibility to lead toxicity in lead- and cadmium-exposed children near an abandoned lead-zinc mining area in Kabwe, Zambia. Environmental science and pollution research international, 29(5), 6622–6632. https://doi.org/10.1007/s11356-021-16098-1
GSTM1 (Null-Allel):
Aliomrani, M., Sahraian, M. A., Shirkhanloo, H., Sharifzadeh, M., Khoshayand, M. R., & Ghahremani, M. H. (2017). Correlation between heavy metal exposure and GSTM1 polymorphism in Iranian multiple sclerosis patients. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 38(7), 1271–1278. https://doi.org/10.1007/s10072-017-2934-5
Barrón Cuenca, J., Tirado, N., Barral, J., Ali, I., Levi, M., Stenius, U., Berglund, M., & Dreij, K. (2019). Increased levels of genotoxic damage in a Bolivian agricultural population exposed to mixtures of pesticides. The Science of the total environment, 695, 133942. https://doi.org/10.1016/j.scitotenv.2019.133942
de Oliveira, A. Á., de Souza, M. F., Lengert, A.v, de Oliveira, M. T., Camargo, R. B., Braga, G. Ú., Cólus, I. M., Barbosa, F., Jr, & Barcelos, G. R. (2014). Genetic polymorphisms in glutathione (GSH-) related genes affect the plasmatic Hg/whole blood Hg partitioning and the distribution between inorganic and methylmercury levels in plasma collected from a fish-eating population. BioMed research international, 2014, 940952. https://doi.org/10.1155/2014/940952
Doukali, H., Ben Salah, G., Hamdaoui, L., Hajjaji, M., Tabebi, M., Ammar-Keskes, L., Masmoudi, M. E., & Kamoun, H. (2017). Oxidative stress and glutathione S-transferase genetic polymorphisms in medical staff professionally exposed to ionizing radiation. International journal of radiation biology, 93(7), 697–704. https://doi.org/10.1080/09553002.2017.1305132
Ghelli, F., Bellisario, V., Squillacioti, G., Panizzolo, M., Santovito, A., & Bono, R. (2021). Formaldehyde in Hospitals Induces Oxidative Stress: The Role of GSTT1 and GSTM1 Polymorphisms. Toxics, 9(8), 178. https://doi.org/10.3390/toxics9080178
Lee, J. U., Jeong, J. Y., Kim, M. K., Min, S. A., Park, J. S., & Park, C. S. (2022). Association of GSTM1 and GSTT1 Null Genotypes with Toluene Diisocyanate-Induced Asthma. Canadian respiratory journal, 2022, 7977937. https://doi.org/10.1155/2022/7977937
Santillán-Sidón, P., Pérez-Morales, R., Anguiano, G., Ruiz-Baca, E., Osten, J. R., Olivas-Calderón, E., & Vazquez-Boucard, C. (2020). Glutathione S-transferase activity and genetic polymorphisms associated with exposure to organochloride pesticides in Todos Santos, BCS, Mexico: a preliminary study. Environmental science and pollution research international, 27(34), 43223–43232. https://doi.org/10.1007/s11356-020-10206-3
Sharma, T., Banerjee, B. D., Thakur, G. K., Guleria, K., & Mazumdar, D. (2019). Polymorphism of xenobiotic metabolizing gene and susceptibility of epithelial ovarian cancer with reference to organochlorine pesticides exposure. Experimental biology and medicine (Maywood, N.J.), 244(16), 1446–1453. https://doi.org/10.1177/1535370219878652
Sirivarasai, J., Wananukul, W., Kaojarern, S., Chanprasertyothin, S., Thongmung, N., Ratanachaiwong, W., Sura, T., & Sritara, P. (2013). Association between inflammatory marker, environmental lead exposure, and glutathione S-transferase gene. BioMed research international, 2013, 474963. https://doi.org/10.1155/2013/474963
Singh, S., Kumar, V., Singh, P., Banerjee, B. D., Rautela, R. S., Grover, S. S., Rawat, D. S., Pasha, S. T., Jain, S. K., & Rai, A. (2012). Influence of CYP2C9, GSTM1, GSTT1 and NAT2 genetic polymorphisms on DNA damage in workers occupationally exposed to organophosphate pesticides. Mutation research, 741(1-2), 101–108. https://doi.org/10.1016/j.mrgentox.2011.11.001
Tang, J. J., Wang, M. W., Jia, E. Z., Yan, J. J., Wang, Q. M., Zhu, J., Yang, Z. J., Lu, X., & Wang, L. S. (2010). The common variant in the GSTM1 and GSTT1 genes is related to markers of oxidative stress and inflammation in patients with coronary artery disease: a case-only study. Molecular biology reports, 37(1), 405–410. https://doi.org/10.1007/s11033-009-9877-8
SOD2 (rs4880):
Funke, S., Risch, A., Nieters, A., Hoffmeister, M., Stegmaier, C., Seiler, C. M., Brenner, H., & Chang-Claude, J. (2009). Genetic Polymorphisms in Genes Related to Oxidative Stress (GSTP1, GSTM1, GSTT1, CAT, MnSOD, MPO, eNOS) and Survival of Rectal Cancer Patients after Radiotherapy. Journal of cancer epidemiology, 2009, 302047. https://doi.org/10.1155/2009/302047
Massy, Z. A., Stenvinkel, P., & Drueke, T. B. (2009). The role of oxidative stress in chronic kidney disease. Seminars in dialysis, 22(4), 405–408. https://doi.org/10.1111/j.1525-139X.2009.00590.x
Lightfoot, T. J., Skibola, C. F., Smith, A. G., Forrest, M. S., Adamson, P. J., Morgan, G. J., Bracci, P. M., Roman, E., Smith, M. T., & Holly, E. A. (2006). Polymorphisms in the oxidative stress genes, superoxide dismutase, glutathione peroxidase and catalase and risk of non-Hodgkin’s lymphoma. Haematologica, 91(9), 1222–1227.
Paludo, F. J., Bristot, I. J., Alho, C. S., Gelain, D. P., & Moreira, J. C. (2014). Effects of 47C allele (rs4880) of the SOD2 gene in the production of intracellular reactive species in peripheral blood mononuclear cells with and without lipopolysaccharides induction. Free radical research, 48(2), 190–199. https://doi.org/10.3109/10715762.2013.859385
Pourvali, K., Abbasi, M., & Mottaghi, A. (2016). Role of Superoxide Dismutase 2 Gene Ala16Val Polymorphism and Total Antioxidant Capacity in Diabetes and its Complications. Avicenna journal of medical biotechnology, 8(2), 48–56.
Soerensen, M., Christensen, K., Stevnsner, T., & Christiansen, L. (2009). The Mn-superoxide dismutase single nucleotide polymorphism rs4880 and the glutathione peroxidase 1 single nucleotide polymorphism rs1050450 are associated with aging and longevity in the oldest old. Mechanisms of ageing and development, 130(5), 308–314. https://doi.org/10.1016/j.mad.2009.01.005
Sutton, A., Imbert, A., Igoudjil, A., Descatoire, V., Cazanave, S., Pessayre, D., & Degoul, F. (2005). The manganese superoxide dismutase Ala16Val dimorphism modulates both mitochondrial import and mRNA stability. Pharmacogenetics and genomics, 15(5), 311–319. https://doi.org/10.1097/01213011-200505000-00006
Sutton, A., Khoury, H., Prip-Buus, C., Cepanec, C., Pessayre, D., & Degoul, F. (2003). The Ala16Val genetic dimorphism modulates the import of human manganese superoxide dismutase into rat liver mitochondria. Pharmacogenetics, 13(3), 145–157. https://doi.org/10.1097/01.fpc.0000054067.64000.8f
Zejnilovic, J., Akev, N., Yilmaz, H., & Isbir, T. (2009). Association between manganese superoxide dismutase polymorphism and risk of lung cancer. Cancer genetics and cytogenetics, 189(1), 1–4. https://doi.org/10.1016/j.cancergencyto.2008.06.017
GSTP1 (rs1695):
Rahbar, M. H., Samms-Vaughan, M., Saroukhani, S., Bressler, J., Hessabi, M., Grove, M. L., Shakspeare-Pellington, S., Loveland, K. A., Beecher, C., & McLaughlin, W. (2021). Associations of Metabolic Genes (GSTT1, GSTP1, GSTM1) and Blood Mercury Concentrations Differ in Jamaican Children with and without Autism Spectrum Disorder. International journal of environmental research and public health, 18(4), 1377. https://doi.org/10.3390/ijerph18041377
Rahbar, M. H., Samms-Vaughan, M., Pitcher, M. R., Bressler, J., Hessabi, M., Loveland, K. A., Christian, M. A., Grove, M. L., Shakespeare-Pellington, S., Beecher, C., McLaughlin, W., & Boerwinkle, E. (2016). Role of Metabolic Genes in Blood Aluminum Concentrations of Jamaican Children with and without Autism Spectrum Disorder. International journal of environmental research and public health, 13(11), 1095. https://doi.org/10.3390/ijerph13111095
Saad-Hussein, A., Noshy, M., Taha, M., El-Shorbagy, H., Shahy, E., & Abdel-Shafy, E. A. (2017). GSTP1 and XRCC1 polymorphisms and DNA damage in agricultural workers exposed to pesticides. Mutation research. Genetic toxicology and environmental mutagenesis, 819, 20–25. https://doi.org/10.1016/j.mrgentox.2017.05.005
Singh, S., Kumar, V., Singh, P., Thakur, S., Banerjee, B. D., Rautela, R. S., Grover, S. S., Rawat, D. S., Pasha, S. T., Jain, S. K., & Rai, A. (2011). Genetic polymorphisms of GSTM1, GSTT1 and GSTP1 and susceptibility to DNA damage in workers occupationally exposed to organophosphate pesticides. Mutation research, 725(1-2), 36–42. https://doi.org/10.1016/j.mrgentox.2011.06.006
Valeeva, E. T., Mukhammadiyeva, G. F., & Bakirov, A. B. (2020). Polymorphism of Glutathione S-transferase Genes and the Risk of Toxic Liver Damage in Petrochemical Workers. The international journal of occupational and environmental medicine, 11(1), 53–58. https://doi.org/10.15171/ijoem.2020.1771
Wong, R. H., Chang, S. Y., Ho, S. W., Huang, P. L., Liu, Y. J., Chen, Y. C., Yeh, Y. H., & Lee, H. S. (2008). Polymorphisms in metabolic GSTP1 and DNA-repair XRCC1 genes with an increased risk of DNA damage in pesticide-exposed fruit growers. Mutation research, 654(2), 168–175. https://doi.org/10.1016/j.mrgentox.2008.06.005
MTRR (rs1801394):
Cai, B., Zhang, T., Zhong, R., Zou, L., Zhu, B., Chen, W., Shen, N., Ke, J., Lou, J., Wang, Z., Sun, Y., Liu, L., & Song, R. (2014). Genetic variant in MTRR, but not MTR, is associated with risk of congenital heart disease: an integrated meta-analysis. PloS one, 9(3), e89609. https://doi.org/10.1371/journal.pone.0089609
García-Minguillán, C. J., Fernandez-Ballart, J. D., Ceruelo, S., Ríos, L., Bueno, O., Berrocal-Zaragoza, M. I., Molloy, A. M., Ueland, P. M., Meyer, K., & Murphy, M. M. (2014). Riboflavin status modifies the effects of methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) polymorphisms on homocysteine. Genes & nutrition, 9(6), 435. https://doi.org/10.1007/s12263-014-0435-1
Olteanu, H., Munson, T., & Banerjee, R. (2002). Differences in the efficiency of reductive activation of methionine synthase and exogenous electron acceptors between the common polymorphic variants of human methionine synthase reductase. Biochemistry, 41(45), 13378–13385. https://doi.org/10.1021/bi020536s
van Beynum, I. M., Kouwenberg, M., Kapusta, L., den Heijer, M., van der Linden, I. J., Daniels, O., & Blom, H. J. (2006). MTRR 66A>G polymorphism in relation to congenital heart defects. Clinical chemistry and laboratory medicine, 44(11), 1317–1323. https://doi.org/10.1515/CCLM.2006.254
Yu, D., Yang, L., Shen, S., Fan, C., Zhang, W., & Mo, X. (2014). Association between methionine synthase reductase A66G polymorphism and the risk of congenital heart defects: evidence from eight case-control studies. Pediatric cardiology, 35(7), 1091–1098. https://doi.org/10.1007/s00246-014-0948-9
Zeng, W., Liu, L., Tong, Y., Liu, H. M., Dai, L., & Mao, M. (2011). A66G and C524T polymorphisms of the methionine synthase reductase gene are associated with congenital heart defects in the Chinese Han population. Genetics and molecular research : GMR, 10(4), 2597–2605. https://doi.org/10.4238/2011.October.25.7
MTHFR (rs1801133):
Al-Batayneh, K. M., Zoubi, M. S. A., Shehab, M., Al-Trad, B., Bodoor, K., Khateeb, W. A., Aljabali, A. A. A., Hamad, M. A., & Eaton, G. (2018). Association between MTHFR 677C>T Polymorphism and Vitamin B12 Deficiency: A Case-control Study. Journal of medical biochemistry, 37(2), 141–147. https://doi.org/10.1515/jomb-2017-0051
Biselli, P. M., Sanches de Alvarenga, M. P., Abbud-Filho, M., Ferreira-Baptista, M. A., Galbiatti, A. L., Goto, M. T., Cardoso, M. A., Eberlin, M. N., Haddad, R., Goloni-Bertollo, E. M., & Pavarino-Bertelli, E. C. (2007). Effect of folate, vitamin B6, and vitamin B12 intake and MTHFR C677T polymorphism on homocysteine concentrations of renal transplant recipients. Transplantation proceedings, 39(10), 3163–3165. https://doi.org/10.1016/j.transproceed.2007.08.098
Bouzidi, N., Hassine, M., Fodha, H., Ben Messaoud, M., Maatouk, F., Gamra, H., & Ferchichi, S. (2020). Association of the methylene-tetrahydrofolate reductase gene rs1801133 C677T variant with serum homocysteine levels, and the severity of coronary artery disease. Scientific reports, 10(1), 10064. https://doi.org/10.1038/s41598-020-66937-3
Cheng, Y., Liu, S., Chen, D., Yang, Y., Liang, Q., Huo, Y., Zhou, Z., Zhang, N., Wang, Z., Liu, L., Song, Y., Liu, X., Duan, Y., Liang, X., Hou, B., Wang, B., Tang, G., Qin, X., & Yan, F. (2022). Association between serum 5-methyltetrahydrofolate and homocysteine in Chinese hypertensive participants with different MTHFR C677T polymorphisms: a cross-sectional study. Nutrition journal, 21(1), 29. https://doi.org/10.1186/s12937-022-00786-w
Chmurzynska, A., Seremak-Mrozikiewicz, A., Malinowska, A. M., Różycka, A., Radziejewska, A., KurzawiŃska, G., Barlik, M., Wolski, H., & Drews, K. (2020). Associations between folate and choline intake, homocysteine metabolism, and genetic polymorphism of MTHFR, BHMT and PEMT in healthy pregnant Polish women. Nutrition & dietetics: the journal of the Dietitians Association of Australia, 77(3), 368–372. https://doi.org/10.1111/1747-0080.12549
García-Minguillán, C. J., Fernandez-Ballart, J. D., Ceruelo, S., Ríos, L., Bueno, O., Berrocal-Zaragoza, M. I., Molloy, A. M., Ueland, P. M., Meyer, K., & Murphy, M. M. (2014). Riboflavin status modifies the effects of methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) polymorphisms on homocysteine. Genes & nutrition, 9(6), 435. https://doi.org/10.1007/s12263-014-0435-1
Klerk, M., Verhoef, P., Clarke, R., Blom, H. J., Kok, F. J., Schouten, E. G., & MTHFR Studies Collaboration Group (2002). MTHFR 677C–>T polymorphism and risk of coronary heart disease: a meta-analysis. JAMA, 288(16), 2023–2031. https://doi.org/10.1001/jama.288.16.2023
Qin, X., Spence, J. D., Li, J., Zhang, Y., Li, Y., Sun, N., Liang, M., Song, Y., Zhang, Y., Wang, B., Cheng, X., Zhao, L., Wang, X., Xu, X., & Huo, Y. (2020). Interaction of serum vitamin B12 and folate with MTHFR genotypes on risk of ischemic stroke. Neurology, 94(11), e1126–e1136. https://doi.org/10.1212/WNL.0000000000008932
Shivkar, R. R., Gawade, G. C., Padwal, M. K., Diwan, A. G., Mahajan, S. A., & Kadam, C. Y. (2022). Association of MTHFR C677T (rs1801133) and A1298C (rs1801131) Polymorphisms with Serum Homocysteine, Folate and Vitamin B12 in Patients with Young Coronary Artery Disease. Indian journal of clinical biochemistry : IJCB, 37(2), 224–231. https://doi.org/10.1007/s12291-021-00982-1
Steluti, J., Carvalho, A. M., Carioca, A. A. F., Miranda, A., Gattás, G. J. F., Fisberg, R. M., & Marchioni, D. M. (2017). Genetic Variants Involved in One-Carbon Metabolism: Polymorphism Frequencies and Differences in Homocysteine Concentrations in the Folic Acid Fortification Era. Nutrients, 9(6), 539. https://doi.org/10.3390/nu9060539
Zhang, J., Zeng, C., Huang, X., Liao, Q., Chen, H., Liu, F., Sun, D., Luo, S., Xiao, Y., Xu, W., Zeng, D., Song, M., & Tian, F. (2022). Association of homocysteine and polymorphism of methylenetetrahydrofolate reductase with early-onset post stroke depression. Frontiers in nutrition, 9, 1078281. https://doi.org/10.3389/fnut.2022.1078281
APOB (rs5742904):
Angotti, E., Mele, E., Costanzo, F., & Avvedimento, E. V. (1994). A polymorphism (G–>A transition) in the -78 position of the apolipoprotein A-I promoter increases transcription efficiency. The Journal of biological chemistry, 269(26), 17371–17374.
Juo, S. H., Wyszynski, D. F., Beaty, T. H., Huang, H. Y., & Bailey-Wilson, J. E. (1999). Mild association between the A/G polymorphism in the promoter of the apolipoprotein A-I gene and apolipoprotein A-I levels: a meta-analysis. American journal of medical genetics, 82(3), 235–241.
Mata, P., Lopez-Miranda, J., Pocovi, M., Alonso, R., Lahoz, C., Marin, C., Garces, C., Cenarro, A., Perez-Jimenez, F., de Oya, M., & Ordovas, J. M. (1998). Human apolipoprotein A-I gene promoter mutation influences plasma low density lipoprotein cholesterol response to dietary fat saturation. Atherosclerosis, 137(2), 367–376. https://doi.org/10.1016/s0021-9150(97)00265-7
Miles, R. R., Perry, W., Haas, J. V., Mosior, M. K., N’Cho, M., Wang, J. W., Yu, P., Calley, J., Yue, Y., Carter, Q., Han, B., Foxworthy, P., Kowala, M. C., Ryan, T. P., Solenberg, P. J., & Michael, L. F. (2013). Genome-wide screen for modulation of hepatic apolipoprotein A-I (ApoA-I) secretion. The Journal of biological chemistry, 288(9), 6386–6396. https://doi.org/10.1074/jbc.M112.410092
Ordovas, J. M., Corella, D., Cupples, L. A., Demissie, S., Kelleher, A., Coltell, O., Wilson, P. W., Schaefer, E. J., & Tucker, K. (2002). Polyunsaturated fatty acids modulate the effects of the APOA1 G-A polymorphism on HDL-cholesterol concentrations in a sex-specific manner: the Framingham Study. The American journal of clinical nutrition, 75(1), 38–46. https://doi.org/10.1093/ajcn/75.1.38
Ordovas J. M. (2002). Gene-diet interaction and plasma lipid responses to dietary intervention. Biochemical Society transactions, 30(2), 68–73.
Ruaño, G., Seip, R. L., Windemuth, A., Zöllner, S., Tsongalis, G. J., Ordovas, J., Otvos, J., Bilbie, C., Miles, M., Zoeller, R., Visich, P., Gordon, P., Angelopoulos, T. J., Pescatello, L., Moyna, N., & Thompson, P. D. (2006). Apolipoprotein A1 genotype affects the change in high density lipoprotein cholesterol subfractions with exercise training. Atherosclerosis, 185(1), 65–69. https://doi.org/10.1016/j.atherosclerosis.2005.05.029
Rudkowska, I., Dewailly, E., Hegele, R. A., Boiteau, V., Dubé-Linteau, A., Abdous, B., Giguere, Y., Chateau-Degat, M. L., & Vohl, M. C. (2013). Gene-diet interactions on plasma lipid levels in the Inuit population. The British journal of nutrition, 109(5), 953–961. https://doi.org/10.1017/S0007114512002231
SREBP2 (rs2228314):
Fan, Y. M., Karhunen, P. J., Levula, M., Ilveskoski, E., Mikkelsson, J., Kajander, O. A., Järvinen, O., Oksala, N., Thusberg, J., Vihinen, M., Salenius, J. P., Kytömäki, L., Soini, J. T., Laaksonen, R., & Lehtimäki, T. (2008). Expression of sterol regulatory element-binding transcription factor (SREBF) 2 and SREBF cleavage-activating protein (SCAP) in human atheroma and the association of their allelic variants with sudden cardiac death. Thrombosis journal, 6, 17. https://doi.org/10.1186/1477-9560-6-17
Wang, Y., Tong, J., Chang, B., Wang, B. F., Zhang, D., & Wang, B. Y. (2014). Relationship of SREBP-2 rs2228314 G>C polymorphism with nonalcoholic fatty liver disease in a Han Chinese population. Genetic testing and molecular biomarkers, 18(9), 653–657. https://doi.org/10.1089/gtmb.2014.0116
APOA5 (rs662799):
Aberle, J., Evans, D., Beil, F. U., & Seedorf, U. (2005). A polymorphism in the apolipoprotein A5 gene is associated with weight loss after short-term diet. Clinical genetics, 68(2), 152–154. https://doi.org/10.1111/j.1399-0004.2005.00463.x
Aouizerat, B. E., Kulkarni, M., Heilbron, D., Drown, D., Raskin, S., Pullinger, C. R., Malloy, M. J., & Kane, J. P. (2003). Genetic analysis of a polymorphism in the human apoA-V gene: effect on plasma lipids. Journal of lipid research, 44(6), 1167–1173. https://doi.org/10.1194/jlr.M200480-JLR200
Dorfmeister, B., Cooper, J. A., Stephens, J. W., Ireland, H., Hurel, S. J., Humphries, S. E., & Talmud, P. J. (2007). The effect of APOA5 and APOC3 variants on lipid parameters in European Whites, Indian Asians and Afro-Caribbeans with type 2 diabetes. Biochimica et biophysica acta, 1772(3), 355–363. https://doi.org/10.1016/j.bbadis.2006.11.008
NQO1 (rs1800566):
Fischer, A., Schmelzer, C., Rimbach, G., Niklowitz, P., Menke, T., & Döring, F. (2011). Association between genetic variants in the Coenzyme Q10 metabolism and Coenzyme Q10 status in humans. BMC research notes, 4, 245. https://doi.org/10.1186/1756-0500-4-245
Freriksen, J. J., Salomon, J., Roelofs, H. M., Te Morsche, R. H., van der Stappen, J. W., Dura, P., Witteman, B. J., Lacko, M., & Peters, W. H. (2014). Genetic polymorphism 609C>T in NAD(P)H:quinone oxidoreductase 1 enhances the risk of proximal colon cancer. Journal of human genetics, 59(7), 381–386. https://doi.org/10.1038/jhg.2014.38
Traver, R. D., Siegel, D., Beall, H. D., Phillips, R. M., Gibson, N. W., Franklin, W. A., & Ross, D. (1997). Characterization of a polymorphism in NAD(P)H: quinone oxidoreductase (DT-diaphorase). British journal of cancer, 75(1), 69–75. https://doi.org/10.1038/bjc.1997.11
MTHFR:
Colson, N. J., Naug, H. L., Nikbakht, E., Zhang, P., & McCormack, J. (2017). The impact of MTHFR 677 C/T genotypes on folate status markers: a meta-analysis of folic acid intervention studies. European journal of nutrition, 56(1), 247–260. https://doi.org/10.1007/s00394-015-1076-x
Födinger, M., Buchmayer, H., Heinz, G., Papagiannopoulos, M., Kletzmayr, J., Rasoul-Rockenschaub, S., Hörl, W. H., & Sunder-Plassmann, G. (2000). Effect of MTHFR 1298A–>C and MTHFR 677C–>T genotypes on total homocysteine, folate, and vitamin B(12) plasma concentrations in kdiney graft recipients. Journal of the American Society of Nephrology : JASN, 11(10), 1918–1925. https://doi.org/10.1681/ASN.V11101918
van der Put, N. M., Gabreëls, F., Stevens, E. M., Smeitink, J. A., Trijbels, F. J., Eskes, T. K., van den Heuvel, L. P., & Blom, H. J. (1998). A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects?. American journal of human genetics, 62(5), 1044–1051. https://doi.org/10.1086/301825
CYP1A2 (rs762551):
Bågeman, E., Ingvar, C., Rose, C., & Jernström, H. (2008). Coffee consumption and CYP1A2*1F genotype modify age at breast cancer diagnosis and estrogen receptor status. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology, 17(4), 895–901. https://doi.org/10.1158/1055-9965.EPI-07-0555
Sachse, C., Brockmöller, J., Bauer, S., & Roots, I. (1999). Functional significance of a C–>A polymorphism in intron 1 of the cytochrome P450 CYP1A2 gene tested with caffeine. British journal of clinical pharmacology, 47(4), 445–449. https://doi.org/10.1046/j.1365-2125.1999.00898.x
Analysierte Krankheitsbilder
APOE – apolipoprotein E (E2/E3/E4):
Bagyinszky E et al. The genetics of Alzheimer’s disease. Clin Interv Aging. 2014 Apr 1,9:535-51. https://doi.org/10.2147/CIA.S51571
Farrer et al. Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease. A meta-analysis. APOE and Alzheimer Disease Meta Analysis Consortium. JAMA. 1997 Oct 22-29,278(16):1349-56.
Jin-Tai Yu et al. Apolipoprotein E in Alzheimer’s Disease: An Update. Annual Review of Neuroscience 2014. https://doi.org/10.1146/annurev-neuro-071013-014300
Liu CC et al. Apolipoprotein E and Alzheimer disease: risk, mechanisms and therapy. Nat Rev Neurol. 2013 Feb,9(2):106-18. https://doi.org/10.1038/nrneurol.2012.263
Tang et al. The APOE-epsilon4 allele and the risk of Alzheimer disease among African Americans, whites, and Hispanics. JAMA. 1998 Mar 11,279(10):751-5. https://doi.org/10.1001/jama.279.10.751
CASC8 (rs6983267):
Abulí A et al. Susceptibility genetic variants associated with colorectal cancer risk correlate with cancer phenotype. Gastroenterology. 2010 Sep,139(3):788-96, 796.e1-6. https://doi.org/10.1053/j.gastro.2010.05.072
Berndt SI et al. Pooled analysis of genetic variation at chromosome 8q24 and colorectal neoplasia risk. Hum Mol Genet. 2008 Sep 1,17(17):2665-72. https://doi.org/10.1093/hmg/ddn166
Cicek MS et al. Functional and clinical significance of variants localized to 8q24 in colon cancer. Cancer Epidemiol Biomarkers Prev. 2009 Sep,18(9):2492-500. https://doi.org/10.1158/1055-9965.EPI-09-0362
Cui R et al. Common variant in 6q26-q27 is associated with distal colon cancer in an Asian population. Gut. 2011 Jun,60(6):799-805. https://doi.org/10.1136/gut.2010.215947
Curtin K et al. Meta association of colorectal cancer confirms risk alleles at 8q24 and 18q21. Cancer Epidemiol Biomarkers Prev. 2009 Feb,18(2):616-21. https://doi.org/10.1158/1055-9965.EPI-08-0690
Haerian MS et al. Association of 8q24.21 loci with the risk of colorectal cancer: a systematic review and meta-analysis. J Gastroenterol Hepatol. 2011 Oct,26(10):1475-84. https://doi.org/10.1111/j.1440-1746.2011.06831.x
He J et al. Generalizability and epidemiologic characterization of eleven colorectal cancer GWAS hits in multiple populations. Cancer Epidemiol Biomarkers Prev. 2011 Jan,20(1):70-81. https://doi.org/10.1158/1055-9965.EPI-10-0892
Hutter CM et al. Characterization of the association between 8q24 and colon cancer: gene-environment exploration and meta-analysis. BMC Cancer. 2010 Dec 4,10:670. https://doi.org/10.1186/1471-2407-10-670
Li L et al. Association of 8q23-24 region (8q23.3 loci and 8q24.21 loci) with susceptibility to colorectal cancer: a systematic and updated meta-analysis. Int J Clin Exp Med. 2015 Nov 15,8(11):21001-13. eCollection 2015.
Li M et al. Genetic variants on chromosome 8q24 and colorectal neoplasia risk: a case-control study in China and a meta-analysis of the published literature. PLoS One. 2011 Mar 24,6(3):e18251. https://doi.org/10.1371/journal.pone.0018251
Matsuo K et al. Association between an 8q24 locus and the risk of colorectal cancer in Japanese. BMC Cancer. 2009 Oct 26,9:379. https://doi.org/10.1186/1471-2407-9-379
Montazeri Z et al. Systematic meta-analyses and field synopsis of genetic association studies in colorectal adenomas. Int J Epidemiol. 2016 Feb,45(1):186-205. https://doi.org/10.1093/ije/dyv185
Nan H et al. Aspirin use, 8q24 single nucleotide polymorphism rs6983267, and colorectal cancer according to CTNNB1 alterations. J Natl Cancer Inst. 2013 Dec 18,105(24):1852-61. https://doi.org/10.1093/jnci/djt331
Poynter JN et al. Variants on 9p24 and 8q24 are associated with risk of colorectal cancer: results from the Colon Cancer Family Registry. Cancer Res. 2007 Dec 1,67(23):11128-32. https://doi.org/10.1158/0008-5472.CAN-07-3239
Schafmayer C et al. Investigation of the colorectal cancer susceptibility region on chromosome 8q24.21 in a large German case-control sample. Int J Cancer. 2009 Jan 1,124(1):75-80. https://doi.org/10.1002/ijc.23872
von Holst S et al. Association studies on 11 published colorectal cancer risk loci. Br J Cancer. 2010 Aug 10,103(4):575-80. https://doi.org/10.1038/sj.bjc.6605774
Xiong F et al. Risk of genome-wide association study-identified genetic variants for colorectal cancer in a Chinese population. Cancer Epidemiol Biomarkers Prev. 2010 Jul,19(7):1855-61. https://doi.org/10.1158/1055-9965.EPI-10-0210
Yao K et al. Correlation Between CASC8, SMAD7 Polymorphisms and the Susceptibility to Colorectal Cancer: An Updated Meta-Analysis Based on GWAS Results. Medicine (Baltimore). 2015 Nov,94(46):e1884. https://doi.org/10.1097/MD.0000000000001884
CASC8 (rs10505477):
Gruber SB et al. Genetic variation in 8q24 associated with risk of colorectal cancer. Cancer Biol Ther. 2007 Jul,6(7):1143-7. https://doi.org/10.4161/cbt.6.7.4704
Hutter CM et al. Characterization of the association between 8q24 and colon cancer: gene-environment exploration and meta-analysis. BMC Cancer. 2010 Dec 4,10:670. https://doi.org/10.1186/1471-2407-10-670
Li L et al. Association of 8q23-24 region (8q23.3 loci and 8q24.21 loci) with susceptibility to colorectal cancer: a systematic and updated meta-analysis. Int J Clin Exp Med. 2015 Nov 15,8(11):21001-13. eCollection 2015.
Real LM et al. A colorectal cancer susceptibility new variant at 4q26 in the Spanish population identified by genome-wide association analysis. PLoS One. 2014 Jun 30,9(6):e101178. https://doi.org/10.1371/journal.pone.0101178
Schafmayer C et al. Investigation of the colorectal cancer susceptibility region on chromosome 8q24.21 in a large German case-control sample. Int J Cancer. 2009 Jan 1,124(1):75-80. https://doi.org/10.1002/ijc.23872
Tan C et al. Risk of eighteen genome-wide association study-identified genetic variants for colorectal cancer and colorectal adenoma in Han Chinese. Oncotarget. 2016 Nov 22,7(47):77651-77663. https://doi.org/10.18632/oncotarget.12750
Yao K et al. Correlation Between CASC8, SMAD7 Polymorphisms and the Susceptibility to Colorectal Cancer: An Updated Meta-Analysis Based on GWAS Results. Medicine (Baltimore). 2015 Nov,94(46):e1884. https://doi.org/10.1097/MD.0000000000001884
CASC8 (rs10808555):
Berndt SI et al. Pooled analysis of genetic variation at chromosome 8q24 and colorectal neoplasia risk. Hum Mol Genet. 2008 Sep 1,17(17):2665-72. https://doi.org/10.1093/hmg/ddn166
Tan C et al. Risk of eighteen genome-wide association study-identified genetic variants for colorectal cancer and colorectal adenoma in Han Chinese. Oncotarget. 2016 Nov 22,7(47):77651-77663.
Yang B et al. Genetic variants at chromosome 8q24, colorectal epithelial cell proliferation, and risk for incident, sporadic colorectal adenomas. Mol Carcinog. 2014 Feb,53 Suppl 1:E187-92. https://doi.org/10.1002/mc.22047
CASC8 (rs7837328):
Berndt SI et al. Pooled analysis of genetic variation at chromosome 8q24 and colorectal neoplasia risk. Hum Mol Genet. 2008 Sep 1,17(17):2665-72. https://doi.org/10.1093/hmg/ddn166
Cui R et al. Common variant in 6q26-q27 is associated with distal colon cancer in an Asian population. Gut. 2011 Jun,60(6):799-805. https://doi.org/10.1136/gut.2010.215947
Li L et al. Association of 8q23-24 region (8q23.3 loci and 8q24.21 loci) with susceptibility to colorectal cancer: a systematic and updated meta-analysis. Int J Clin Exp Med. 2015 Nov 15,8(11):21001-13. eCollection 2015.
Tan C et al. Risk of eighteen genome-wide association study-identified genetic variants for colorectal cancer and colorectal adenoma in Han Chinese. Oncotarget. 2016 Nov 22,7(47):77651-77663. https://doi.org/10.18632/oncotarget.12750
Yang B et al. Genetic variants at chromosome 8q24, colorectal epithelial cell proliferation, and risk for incident, sporadic colorectal adenomas. Mol Carcinog. 2014 Feb,53 Suppl 1:E187-92. https://doi.org/10.1002/mc.22047
Yao K et al. Correlation Between CASC8, SMAD7 Polymorphisms and the Susceptibility to Colorectal Cancer: An Updated Meta-Analysis Based on GWAS Results. Medicine (Baltimore). 2015 Nov,94(46):e1884. https://doi.org/10.1097/MD.0000000000001884
CASC8 (rs7014346):
Kupfer SS et al. Genetic heterogeneity in colorectal cancer associations between African and European americans. Gastroenterology. 2010 Nov,139(5):1677-85, 1685.e1-8. https://doi.org/10.1053/j.gastro.2010.07.038
Li L et al. Association of 8q23-24 region (8q23.3 loci and 8q24.21 loci) with susceptibility to colorectal cancer: a systematic and updated meta-analysis. Int J Clin Exp Med. 2015 Nov 15,8(11):21001-13. eCollection 2015.
Tan C et al. Risk of eighteen genome-wide association study-identified genetic variants for colorectal cancer and colorectal adenoma in Han Chinese. Oncotarget. 2016 Nov 22,7(47):77651-77663. https://doi.org/10.18632/oncotarget.12750
Tenesa A et al. Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21. Nat Genet. 2008 May,40(5):631-7. https://doi.org/10.1038/ng.133
Yao K et al. Correlation Between CASC8, SMAD7 Polymorphisms and the Susceptibility to Colorectal Cancer: An Updated Meta-Analysis Based on GWAS Results. Medicine (Baltimore). 2015 Nov,94(46):e1884. https://doi.org/10.1097/MD.0000000000001884
CCND1 (rs9344):
Grünhage F et al. Association of familial colorectal cancer with variants in the E-cadherin (CDH1) and cyclin D1 (CCND1) genes. Int J Colorectal Dis. 2008 Feb,23(2):147-54. Epub 2007 Oct 25. https://doi.org/10.1007/s00384-007-0388-6.
Le Marchand L et al. Association of the cyclin D1 A870G polymorphism with advanced colorectal cancer. JAMA. 2003 Dec 3,290(21):2843-8.
Porter TR et al. Contribution of cyclin d1 (CCND1) and E-cadherin (CDH1) polymorphisms to familial and sporadic colorectal cancer. Oncogene. 2002 Mar 14,21(12):1928-33. https://doi.org/10.1007/s13277-014-2505-9
Probst-Hensch NM et al. The effect of the cyclin D1 (CCND1) A870G polymorphism on colorectal cancer risk is modified by glutathione-S-transferase polymorphisms and isothiocyanate intake in the Singapore Chinese Health Study. Carcinogenesis. 2006 Dec,27(12):2475-82. Epub 2006 Jul 8. https://doi.org/10.1093/carcin/bgl116
Qiu H et al. Investigation of cyclin D1 rs9344 G>A polymorphism in colorectal cancer: a meta-analysis involving 13,642 subjects. Onco Targets Ther. 2016 Oct 27,9:6641-6650. eCollection 2016. https://doi.org/10.2147/OTT.S116258
Xu XM et al. CCND1 G870A polymorphism and colorectal cancer risk: An updated meta-analysis. Mol Clin Oncol. 2016 Jun,4(6):1078-1084. Epub 2016 Apr 4. https://doi.org/10.3892/mco.2016.844
Yang J et al. CCND1 G870A polymorphism is associated with increased risk of colorectal cancer, especially for sporadic colorectal cancer and in Caucasians: a meta-analysis. Clin Res Hepatol Gastroenterol. 2012 Apr,36(2):169-77. https://doi.org/10.1016/j.clinre.2011.11.007
Yang Y et al. Cyclin D1 G870A polymorphism contributes to colorectal cancer susceptibility: evidence from a systematic review of 22 case-control studies. PLoS One. 2012,7(5):e36813. https://doi.org/10.1371/journal.pone.0036813
Zahary MN et al. Polymorphisms of cell cycle regulator genes CCND1 G870A and TP53 C215G: Association with colorectal cancer susceptibility risk in a Malaysian population. Oncol Lett. 2015 Nov,10(5):3216-3222. Epub 2015 Sep 18. https://doi.org/10.3892/ol.2015.3728
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Zhang W et al. Cyclin D1 and epidermal growth factor polymorphisms associated with survival in patients with advanced colorectal cancer treated with Cetuximab. Pharmacogenet Genomics. 2006 Jul,16(7):475-83. https://doi.org/10.1097/01.fpc.0000220562.67595.a5
CDH1 (rs16260):
Grünhage F et al. Association of familial colorectal cancer with variants in the E-cadherin (CDH1) and cyclin D1 (CCND1) genes. Int J Colorectal Dis. 2008 Feb,23(2):147-54. Epub 2007 Oct 25. https://doi.org/10.1007/s00384-007-0388-6
Pittman AM et al. The CDH1-160C>A polymorphism is a risk factor for colorectal cancer. Int J Cancer. 2009 Oct 1,125(7):1622-1625. https://doi.org/10.1002/ijc.24542
Wang Y et al. E-cadherin (CDH1) gene promoter polymorphism and the risk of colorectal cancer : a meta-analysis. Int J Colorectal Dis. 2012 Feb,27(2):151-8. https://doi.org/10.1007/s00384-011-1320-7
COLCA (rs3802842):
Giráldez MD et al. Susceptibility genetic variants associated with early-onset colorectal cancer. Carcinogenesis. 2012 Mar,33(3):613-9. https://doi.org/10.1093/carcin/bgs009
He J et al. Generalizability and epidemiologic characterization of eleven colorectal cancer GWAS hits in multiple populations. Cancer Epidemiol Biomarkers Prev. 2011 Jan,20(1):70-81. https://doi.org/10.1158/1055-9965.EPI-10-0892
Li FX et al. Single-nucleotide polymorphism associations for colorectal cancer in southern chinese population. Chin J Cancer Res. 2012 Mar,24(1):29-35. https://doi.org/10.1007/s11670-012-0029-7
Niittymäki I et al. Low-penetrance susceptibility variants in familial colorectal cancer. Cancer Epidemiol Biomarkers Prev. 2010 Jun,19(6):1478-83. https://doi.org/10.1158/1055-9965.EPI-09-1320
Talseth-Palmer BA et al. Colorectal cancer susceptibility loci on chromosome 8q23.3 and 11q23.1 as modifiers for disease expression in Lynch syndrome. J Med Genet. 2011 Apr,48(4):279-84. https://doi.org/10.1136/jmg.2010.079962
Tenesa A et al. Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21. Nat Genet. 2008 May,40(5):631-7. https://doi.org/10.1038/ng.133
Xiong F et al. Risk of genome-wide association study-identified genetic variants for colorectal cancer in a Chinese population. Cancer Epidemiol Biomarkers Prev. 2010 Jul,19(7):1855-61. https://doi.org/10.1093/carcin/bgt082
CYP1A1 (rs1048943):
Gil J et al. CYP1A1 Ile462Val polymorphism and colorectal cancer risk in Polish patients. Med Oncol. 2014 Jul,31(7):72.
Hou L et al. CYP1A1 Val462 and NQO1 Ser187 polymorphisms, cigarette use, and risk for colorectal adenoma. Carcinogenesis. 2005 Jun,26(6):1122-8. Epub 2005 Feb 24. https://doi.org/10.1093/carcin/bgi054
Jin JQ et al. CYP1A1 Ile462Val polymorphism contributes to colorectal cancer risk: a meta-analysis. World J Gastroenterol. 2011 Jan 14,17(2):260-6. https://doi.org/10.3748/wjg.v17.i2.260
Kiss I et al. Colorectal cancer risk in relation to genetic polymorphism of cytochrome P450 1A1, 2E1, and glutathione-S-transferase M1 enzymes. Anticancer Res. 2000 Jan-Feb,20(1B):519-22.
Pande M et al. Genetic variation in genes for the xenobiotic-metabolizing enzymes CYP1A1, EPHX1, GSTM1, GSTT1, and GSTP1 and susceptibility to colorectal cancer in Lynch syndrome. Cancer Epidemiol Biomarkers Prev. 2008 Sep,17(9):2393-401. https://doi.org/10.1158/1055-9965.EPI-08-0326
Pereira Serafim PV et al. Relationship between genetic polymorphism of CYP1A1 at codon 462 (Ile462Val) in colorectal cancer. Int J Biol Markers. 2008 Jan-Mar,23(1):18-23. https://doi.org/10.1177/172460080802300103
Xu L et al. Association between CYP1A1 2454A > G polymorphism and colorectal cancer risk: A meta-analysis. J Cancer Res Ther. 2015 Oct Dec,11(4):760-4. https://doi.org/10.4103/0973-1482.160909
Yeh CC et al. Association between polymorphisms of biotransformation and DNA-repair genes and risk of colorectal cancer in Taiwan. J Biomed Sci. 2007 Mar,14(2):183-93. Epub 2006 Dec 27.
Zheng Y et al. Association between CYP1A1 polymorphism and colorectal cancer risk: a meta-analysis. Mol Biol Rep. 2012 Apr,39(4):3533-40. https://doi.org/10.1007/s11033-011-1126-2
Zhu X et al. Associations between CYP1A1 rs1048943 A > G and rs4646903 T > C genetic variations and colorectal cancer risk: Proof from 26 case-control studies. Oncotarget. 2016 Aug 9,7(32):51365-51374. https://doi.org/10.18632/oncotarget.10331
DNMT3B (rs1569686):
Bao Q et al. Correlation between polymorphism in the promoter of DNA methyltransferase-3B and the risk of colorectal cancer. Zhonghua Yu Fang Yi Xue Za Zhi. 2012 Jan,46(1):53-7.
Bao Q et al. Genetic variation in the promoter of DNMT3B is associated with the risk of colorectal cancer. Int J Colorectal Dis. 2011 Sep,26(9):1107-12. https://doi.org/10.1007/s00384-011-1199-3
Daraei A et al. DNA-methyltransferase 3B 39179 G > T polymorphism and risk of sporadic colorectal cancer in a subset of Iranian population. J Res Med Sci. 2011 Jun,16(6):807-13.
Duan F et al. Systematic evaluation of cancer risk associated with DNMT3B polymorphisms. J Cancer Res Clin Oncol. 2015 Jul,141(7):1205-20. https://doi.org/10.1007/s00432-014-1894-x
Fan H et al. Promoter polymorphisms of DNMT3B and the risk of colorectal cancer in Chinese: a case-control study. J Exp Clin Cancer Res. 2008 Jul 28,27:24. https://doi.org/10.1186/1756-9966-27-24
Guo X et al. Association of the DNMT3B polymorphism with colorectal adenomatous polyps and adenocarcinoma. Mol Biol Rep. 2010 Jan,37(1):219-25. https://doi.org/10.1007/s11033-009-9626-z
Ho V et al. Genetic and epigenetic variation in the DNMT3B and MTHFR genes and colorectal adenoma risk. Environ Mol Mutagen. 2016 May,57(4):261-8. https://doi.org/10.1002/em.22010
Hong YS et al. DNMT3b 39179GT polymorphism and the risk of adenocarcinoma of the colon in Koreans. Biochem Genet. 2007 Apr,45(3-4):155-63. Epub 2007 Feb 23. https://doi.org/10.1007/s10528-006-9047-9
Khoram-Abadi KM et al. DNMT3B -149 C>T and -579 G>T Polymorphisms and Risk of Gastric and Colorectal Cancer: a Meta-analysis. Asian Pac J Cancer Prev. 2016,17(6):3015-20.
Zhang Y et al. Association of DNMT3B -283 T > C and -579 G > T polymorphisms with decreased cancer risk: evidence from a meta-analysis. Int J Clin Exp Med. 2015 Aug 15,8(8):13028-38. eCollection 2015.
Zhu S et al. DNMT3B polymorphisms and cancer risk: a meta analysis of 24 case-control studies. Mol Biol Rep. 2012 Apr,39(4):4429-37.
GREM1 (rs10318):
Kupfer SS et al. Genetic heterogeneity in colorectal cancer associations between African and European americans. Gastroenterology. 2010 Nov,139(5):1677-85, 1685.e1-8. https://doi.org/10.1053/j.gastro.2010.07.038
Kupfer SS et al. Shared and independent colorectal cancer risk alleles in TGFβ-related genes in African and European Americans. Carcinogenesis. 2014 Sep,35(9):2025-30. https://doi.org/10.1093/carcin/bgu088
Tu L et al. Common genetic variants (rs4779584 and rs10318) at 15q13.3 contributes to colorectal adenoma and colorectal cancer susceptibility: evidence based on 22 studies. Mol Genet Genomics. 2015 Jun,290(3):901-12. https://doi.org/10.1007/s00438-014-0970-x
IL8 (rs4073):
Bondurant KL et al. Interleukin genes and associations with colon and rectal cancer risk and overall survival. Int J Cancer. 2013 Feb 15,132(4):905-15. https://doi.org/10.1002/ijc.27660
Gunter MJ et al. Inflammation-related gene polymorphisms and colorectal adenoma. Cancer Epidemiol Biomarkers Prev. 2006 Jun,15(6):1126-31. . https://doi.org/10.1158/1055-9965.EPI-06-0042
Küry S et al. Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study. BMC Cancer. 2008 Nov 7,8:326. https://doi.org/10.1186/1471-2407-8-326
Walczak A et al. The lL-8 and IL-13 gene polymorphisms in inflammatory bowel disease and colorectal cancer. DNA Cell Biol. 2012 Aug,31(8):1431-8. https://doi.org/10.1089/dna.2012.1692
IL10 (rs1800872):
Cacev T et al. Influence of interleukin-8 and interleukin-10 on sporadic colon cancer development and progression. Carcinogenesis. 2008 Aug,29(8):1572-80. https://doi.org/10.1093/carcin/bgn164
Cai J et al. An Analysis of IL-10/IL-10R Genetic Factors Related to Risk of Colon Cancer and Inflammatory Bowel Disease in a Han Chinese Population. Clin Lab. 2016,62(6):1147-54. https://doi.org/10.7754/clin.lab.2015.151120
Shi YH et al. The association of three promoter polymorphisms in interleukin-10 gene with the risk for colorectal cancer and hepatocellular carcinoma: A meta-analysis. Sci Rep. 2016 Aug 4,6:30809. https://doi.org/10.1038/srep30809
Yu Y et al. Polymorphisms of inflammation-related genes and colorectal cancer risk: a population-based case-control study in China. Int J Immunogenet. 2014 Aug,41(4):289-97. https://doi.org/10.1111/iji.12119
Zhang YM et al. Meta-analysis of epidemiological studies of association of two polymorphisms in the interleukin-10 gene promoter and colorectal cancer risk. Genet Mol Res. 2012 Sep 25,11(3):3389-97. https://doi.org/10.4238/2012.September.25.7
MTHFR (rs1801133):
Delgado-Plasencia L et al. Impact of the MTHFR C677T polymorphism on colorectal cancer in a population with low genetic variability. Int J Colorectal Dis. 2013 Sep,28(9):1187-93.
Fernández-Peralta AM et al. Association of polymorphisms MTHFR C677T and A1298C with risk of colorectal cancer, genetic and epigenetic characteristic of tumors, and response to chemotherapy. Int J Colorectal Dis. 2010 Feb,25(2):141-51.
Gallegos-Arreola MP et al. Association of the 677C –>T polymorphism in the MTHFR gene with colorectal cancer in Mexican patients. Cancer Genomics Proteomics. 2009 May-Jun,6(3):183-8.
Guo XP et al. Association of MTHFR C677T polymorphisms and colorectal cancer risk in Asians: evidence of 12,255 subjects. Clin Transl Oncol. 2014 Jul,16(7):623-9. https://doi.org/10.1007/s12094-013-1126-x
Huang Y et al. Different roles of MTHFR C677T and A1298C polymorphisms in colorectal adenoma and colorectal cancer: a meta-analysis. J Hum Genet. 2007,52(1):73-85. Epub 2006 Nov 7. https://doi.org/10.1007/s10038-006-0082-5
Hubner RA et al. MTHFR C677T and colorectal cancer risk: A meta-analysis of 25 populations. Int J Cancer. 2007 Mar 1,120(5):1027-35. https://doi.org/10.1002/ijc.22440
Jiang Q et al. Diets, polymorphisms of methylenetetrahydrofolate reductase, and the susceptibility of colon cancer and rectal cancer. Cancer Detect Prev. 2005,29(2):146-54. https://doi.org/10.1016/j.cdp.2004.11.004
Kim J et al. Dietary intake of folate and alcohol, MTHFR C677T polymorphism, and colorectal cancer risk in Korea. Am J Clin Nutr. 2012 Feb,95(2):405-12. https://doi.org/10.3945/ajcn.111.020255
Koushik A et al. Nonsynonymous polymorphisms in genes in the one-carbon metabolism pathway and associations with colorectal cancer. Cancer Epidemiol Biomarkers Prev. 2006 Dec,15(12):2408-17. https://doi.org/10.1158/1055-9965.EPI-06-0624
Le Marchand L et al. The MTHFR C677T polymorphism and colorectal cancer: the multiethnic cohort study. Cancer Epidemiol Biomarkers Prev. 2005 May,14(5):1198-203. https://doi.org/10.1158/1055-9965.EPI-04-0840
Li H et al. Methylenetetrahydrofolate reductase genotypes and haplotypes associated with susceptibility to colorectal cancer in an eastern Chinese Han population. Genet Mol Res. 2011 Dec 14,10(4):3738-46. https://doi.org/10.4238/2011.December.14.8
Miao XP et al. Association between genetic variations in methylenetetrahydrofolate reductase and risk of colorectal cancer in a Chinese population. Zhonghua Yu Fang Yi Xue Za Zhi. 2005 Nov,39(6):409-11.
Pardini B et al. MTHFR and MTRR genotype and haplotype analysis and colorectal cancer susceptibility in a case-control study from the Czech Republic. Mutat Res. 2011 Mar 18,721(1):74-80. https://doi.org/10.1016/j.mrgentox.2010.12.008
Shiao SP et al. Meta-Prediction of MTHFR Gene Polymorphism Mutations and Associated Risk for Colorectal Cancer. Biol Res Nurs. 2016 Jul,18(4):357-69. https://doi.org/10.1177/1099800415628054
Sheng X et al. MTHFR C677T polymorphism contributes to colorectal cancer susceptibility: evidence from 61 case-control studies. Mol Biol Rep. 2012 Oct,39(10):9669-79. https://doi.org/10.1007/s11033-012-1832-4
Teng Z et al. The 677C>T (rs1801133) polymorphism in the MTHFR gene contributes to colorectal cancer risk: a meta-analysis based on 71 research studies. PLoS One. 2013,8(2):e55332. https://doi.org/10.1371/journal.pone.0055332
Ulvik A et al. Colorectal cancer and the methylenetetrahydrofolate reductase 677C -> T and methionine synthase 2756A -> G polymorphisms: a study of 2,168 case-control pairs from the JANUS cohort. Cancer Epidemiol Biomarkers Prev. 2004 Dec,13(12):2175-80.
Xie SZ et al. Association between the MTHFR C677T polymorphism and risk of cancer: evidence from 446 case-control studies. Tumour Biol. 2015 Nov,36(11):8953-72. https://doi.org/10.1007/s13277-015-3648-z
Yang Z et al. MTHFR C677T polymorphism and colorectal cancer risk in Asians, a meta-analysis of 21 studies. Asian Pac J Cancer Prev. 2012,13(4):1203-8. https://doi.org/10.7314/apjcp.2012.13.4.1203
Yin G et al. Methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and colorectal cancer: the Fukuoka Colorectal Cancer Study. Cancer Sci. 2004 Nov,95(11):908-13. https://doi.org/10.1111/j.1349-7006.2004.tb02201.x
Yousef AM et al. Allele and genotype frequencies of the polymorphic methylenetetrahydrofolate reductase and colorectal cancer among Jordanian population. Asian Pac J Cancer Prev. 2013,14(8):4559-65. https://doi.org/10.7314/apjcp.2013.14.8.4559
Zhao Met al. Association of methylenetetrahydrofolate reductase C677T and A1298C polymorphisms with colorectal cancer risk: A meta-analysis. Biomed Rep. 2013 Sep,1(5):781-791. Epub 2013 Jul 15. https://doi.org/10.3892/br.2013.134
Zhou D et al. The polymorphisms in methylenetetrahydrofolate reductase, methionine synthase, methionine synthase reductase, and the risk of colorectal cancer. Int J Biol Sci. 2012,8(6):819-30. https://doi.org/10.7150/ijbs.4462
Zhong S et al. Quantitative assessment of the association between MTHFR C677T polymorphism and colorectal cancer risk in East Asians. Tumour Biol. 2012 Dec,33(6):2041-51. https://doi.org/10.1007/s13277-012-0463-7
MTRR (rs1801394):
Guimarães JL et al. Gene polymorphisms involved in folate and methionine metabolism and increased risk of sporadic colorectal adenocarcinoma. Tumour Biol. 2011 Oct,32(5):853-61. https://doi.org/10.1007/s13277-011-0185-2
Han D et al. Methionine synthase reductase A66G polymorphism contributes to tumor susceptibility: evidence from 35 case-control studies. Mol Biol Rep. 2012 Feb,39(2):805-16 https://doi.org/10.1007/s11033-011-0802-6
Matsuo K et al. Methionine Synthase Reductase Gene A66G Polymorphism is Associated with Risk of Colorectal Cancer. Asian Pac J Cancer Prev. 2002,3(4):353-359.
Pardini B et al. MTHFR and MTRR genotype and haplotype analysis and colorectal cancer susceptibility in a case-control study from the Czech Republic. Mutat Res. 2011 Mar 18,721(1):74-80. https://doi.org/10.1016/j.mrgentox.2010.12.008
Wu PP et al. A meta-analysis of MTRR A66G polymorphism and colorectal cancer susceptibility. J BUON. 2015 May-Jun,20(3):918-22.
Zhou D et al. The polymorphisms in methylenetetrahydrofolate reductase, methionine synthase, methionine synthase reductase, and the risk of colorectal cancer. Int J Biol Sci. 2012,8(6):819-30.
SMAD7 (rs12953717):
Ho JW et al. Replication study of SNP associations for colorectal cancer in Hong Kong Chinese. Br J Cancer. 2011 Jan 18,104(2):369-75. https://doi.org/10.1038/sj.bjc.6605977
Jiang X et al. Genetic variations in SMAD7 are associated with colorectal cancer risk in the colon cancer family registry. PLoS One. 2013,8(4):e60464. https://doi.org/10.1371/journal.pone.0060464
Li X et al. A risk-associated single nucleotide polymorphism of SMAD7 is common to colorectal, gastric, and lung cancers in a Han Chinese population. Mol Biol Rep. 2011 Nov,38(8):5093-7. https://doi.org/10.1007/s11033-010-0656-3
Thompson CL et al. Association of common genetic variants in SMAD7 and risk of colon cancer. Carcinogenesis. 2009 Jun,30(6):982-6. https://doi.org/10.1093/carcin/bgp086
Yao K et al. Correlation Between CASC8, SMAD7 Polymorphisms and the Susceptibility to Colorectal Cancer: An Updated Meta-Analysis Based on GWAS Results. Medicine (Baltimore). 2015 Nov,94(46):e1884. https://doi.org/10.1097/md.0000000000001884
TGFB1 (rs1800469):
Amirghofran Z et al. Genetic polymorphism in the transforming growth factor beta1 gene (-509 C/T and -800 G/A) and colorectal cancer. Cancer Genet Cytogenet. 2009 Apr 1,190(1):21-5. https://doi.org/10.1016/j.cancergencyto.2008.11.010
Chung SJ et al. Transforming growth factor-[beta]1 -509T reduces risk of colorectal cancer, but not adenoma in Koreans. Cancer Sci. 2007 Mar,98(3):401-4. https://doi.org/10.1007/s12032-009-9383-9
Fang F et al. TGFB1 509 C/T polymorphism and colorectal cancer risk: a meta-analysis. Med Oncol. 2010 Dec,27(4):1324-8. https://doi.org/10.1007/s12032-009-9383-9
Liu Y et al. Meta-analyses of the associations between four common TGF-β1 genetic polymorphisms and risk of colorectal tumor. Tumour Biol. 2012 Aug,33(4):1191-9. https://doi.org/10.1007/s13277-012-0364-9
Slattery ML et al. Genetic variation in the TGF-β signaling pathway and colon and rectal cancer risk. Cancer Epidemiol Biomarkers Prev. 2011 Jan,20(1):57-69.
Wang Y et al. An updated meta-analysis on the association of TGF-β1 gene promoter -509C/T polymorphism with colorectal cancer risk. Cytokine. 2013 Jan,61(1):181-7. https://doi.org/10.1016/j.cyto.2012.09.014
Zhang Y et al. Genetic polymorphisms of transforming growth factor-beta1 and its receptors and colorectal cancer susceptibility: a population-based case-control study in China. Cancer Lett. 2009 Mar 8,275(1):102-8. https://doi.org/10.1016/j.canlet.2008.10.017
TCF7L2 (rs7903146):
Bodhini et al. The rs12255372(G/T) and rs7903146(C/T) polymorphisms of the TCF7L2 gene are associated with type 2 diabetes mellitus in Asian Indians. Metabolism. 2007 Sep,56(9):1174-8. https://doi.org/10.1016/j.metabol.2007.04.012
Cauchi et al. TCF7L2 genetic defect and type 2 diabetes. Curr Diab Rep. 2008 Apr,8(2):149-55. https://doi.org/10.1007/s11892-008-0026-x
Hivert MF et al. Updated genetic score based on 34 confirmed type 2 diabetes Loci is associated with diabetes incidence and regression to normoglycemia in the diabetes prevention program. Diabetes. 2011,60(4):1340-8. https://doi.org/10.2337/db10-1119
Lyssenko et al. Mechanisms by which common variants in the TCF7L2 gene increase risk of type 2 diabetes. J Clin Invest. Aug 1, 2007, 117(8): 2155–2163. https://doi.org/10.1172/JCI30706
HIGD1C (rs12304921):
Prasad RB et al. Genetics of type 2 diabetes-pitfalls and possibilities. Genes (Basel). 2015 Mar 12,6(1):87-123. https://doi.org/10.3390/genes6010087
Ryoo H et al. Heterogeneity of genetic associations of CDKAL1 and HHEX with susceptibility of type 2 diabetes mellitus by gender. Eur J Hum Genet. 2011 Jun,19(6):672-5. https://doi.org/10.1038/ejhg.2011.6
The Wellcome Trust Case Control Consortium. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature. 2007 Jun 7,447(7145):661-78. https://doi.org/10.1038/nature05911
HHEX (rs1111875):
Furukawa et al. Polymorphisms in the IDE-KIF11-HHEX gene locus are reproducibly associated with type 2 diabetes in a Japanese population. J Clin Endocrinol Metab. 2008 Jan,93(1):310-4. https://doi.org/10.1210/jc.2007-1029
Hivert MF et al. Updated genetic score based on 34 confirmed type 2 diabetes Loci is associated with diabetes incidence and regression to normoglycemia in the diabetes prevention program. Diabetes. 2011,60(4):1340-8. https://doi.org/10.2337/db10-1119
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IL6 (rs1800795):
Fishman et al. The effect of novel polymorphisms in the interleukin-6 (IL-6) gene on IL-6 transcription and plasma IL-6 levels, and an association with systemic-onset juvenile chronic arthritis. J Clin Invest. 1998 Oct 1,102(7):1369-76. https://doi.org/10.1172/JCI2629
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IL10 (rs1800872):
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PPARG (rs1801282):
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FTO (rs9939609):
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KCNJ11 (rs5219):
Florez et al. Haplotype structure and genotype-phenotype correlations of the sulfonylurea receptor and the islet ATP-sensitive potassium channel gene region. Diabetes. 2004 May,53(5):1360-8. https://doi.org/10.2337/diabetes.53.5.1360
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NOS1AP (rs10494366):
Becker et al. Common variation in the NOS1AP gene is associated with reduced glucose-lowering effect and with increased mortality in users of sulfonylurea. Pharmacogenet Genomics. 2008 Jul,18(7):591-7. https://doi.org/10.1097/FPC.0b013e328300e8c5
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CDH13 (rs8055236):
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CHDS8 (rs1333049):
Bilguvar K. et al. Susceptibility loci for intracranial aneurysm in European and Japanese populations. Nat Genet. 2008 Dec,40(12):1472-7. https://doi.org/10.1038/ng.240
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Helgadottir A. et al. The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm. Nat Genet. 2008 Feb,40(2):217-24. https://doi.org/10.1038/ng.72
Helgadottir A. et al. A common variant on chromosome 9p21 affects the risk of myocardial infarction. Science. 2007 Jun 8,316(5830):1491-3. https://doi.org/10.1126/science.1142842
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APOA5 (rs662799):
Aberle J. et al. A polymorphism in the apolipoprotein A5 gene is associated with weight loss after short-term diet. Clin Genet. 2005 Aug,68(2):152-4. https://doi.org/10.1111/j.1399-0004.2005.00463.x
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PON1 (rs662):
Ahmad I et al. Two- and three-locus haplotypes of the paraoxonase (PON1) gene are associated with coronary artery disease in Asian Indians. Gene. 2012 Sep 10,506(1):242-7. https://doi.org/10.1016/j.gene.2012.06.031
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PON1 (rs854560):
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APOB (rs5742904):
Castillo et al. The apolipoprotein B R3500Q gene mutation in Spanish subjects with a clinical diagnosis of familial hypercholesterolemia. Atherosclerosis. 2002 Nov,165(1):127-35. https://doi.org/10.1016/s0021-9150(02)00190-9
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NOS3 (Ins/Del Int. 4):
Casas et al. Endothelial nitric oxide synthase genotype and ischemic heart disease: meta-analysis of 26 studies involving 23028 subjects. Circulation. 2004 Mar 23,109(11):1359-65. https://doi.org/10.1161/01.CIR.0000121357.76910.A3
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NOS3 (rs2070744):
Lee CR et al. NOS3 polymorphisms, cigarette smoking, and cardiovascular disease risk: the Atherosclerosis Risk in Communities study. Pharmacogenet Genomics. 2006 Dec,16(12):891-9. https://doi.org/10.1097/01.fpc.0000236324.96056.16
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NOS3 (rs1799983):
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APOA1 (rs670):
Angotti E et al. A polymorphism (G–>A transition) in the -78 position of the apolipoprotein A-I promoter increases transcription efficiency. J Biol Chem. 1994 Jul 1,269(26):17371-4.
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MTRR (rs1801394):
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GJA4 (rs1764391):
Guo SX et al. Association between C1019T polymorphism of the connexin37 gene and coronary heart disease in patients with in-stent restenosis. Exp Ther Med. 2013 Feb,5(2):539-544. Epub 2012 Dec 5. https://doi.org/10.3892/etm.2012.852
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ITGB3 (rs5918):
Erdman V et al. OS 08-03 PHARMACOGENETIC MARKERS OF SURVIVAL. J Hypertens. 2016 Sep,34 Suppl 1 – ISH 2016 Abstract Book:e68.
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CETP (rs708272):
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MTHFR (rs1801133):
Ashfield-Watt P.A. et al. Methylenetetrahydrofolate reductase 677C–>T genotype modulates homocysteine responses to a folate-rich diet or a low dose folic acid supplement: a randomized controlled trial. Am J Clin Nutr. 2002 Jul,76(1):180-6. https://doi.org/10.1093/ajcn/76.1.180
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MMP3 (rs3025058):
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NOS1AP (rs16847548):
Arking et al. Multiple independent genetic factors at NOS1AP modulate the QT interval in a multi-ethnic population. PLoS One. 2009,4(1):e4333. https://doi.org/10.1371/journal.pone.0004333
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NOS1AP (rs12567209):
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NOS1AP (rs10494366):
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SREBF2 (rs2228314):
Fan et al. Expression of sterol regulatory element-binding transcription factor (SREBF) 2 and SREBF cleavage-activating protein (SCAP) in human atheroma and the association of their allelic variants with sudden cardiac death. Published online Dec 30, 2008. https://doi.org/10.1186/1477-9560-6-17
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CYP1A2 (rs762551):
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APOE (E2/E3/E4):
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GSTM1:
Ford JG et al. Glutathione S-transferase M1 polymorphism and lung cancer risk in African-Americans. Carcinogenesis. 2000 Nov,21(11):1971-5. https://doi.org/10.1093/carcin/21.11.1971
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GSTT1:
Gui Q et al. The present/null polymorphism in the GSTT1 gene and the risk of lung cancer in Chinese population. Tumour Biol. 2013 Dec,34(6):3465-9. https://doi.org/10.1007/s13277-013-0923-8
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GSTP1 (rs1695):
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Col1A1 (rs1800012):
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VDR (rs1544410):
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ESR1 (rs2234693):
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LCT (rs4988235):
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TNF-α (rs1800629):
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IL1A (rs1800587):
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