Genetic Variance SNP References "Dirty Genes"

ApoB_rs693 
(Apolipoprotein B)
Healthy Lipid Support

Benn, M., Nordestgaard, B. G., Jensen, J. S., Grande, P., Sillesen, H., Tybjaerg-Hansen, A.  Polymorphism in APOB associated with increases in low-density lipoprotein levels in both  genders in the general population. J. Clin. Endocr. Metab. 90: 5797-5803, 2005. [PubMed:  16030169, related citations] [Full Text]

Benn, M., Nordestgaard, B. G., Jensen, J. S., Tybjaerg-Hansen, A. Polymorphisms in  apolipoprotein B and risk of ischemic stroke. J. Clin. Endocr. Metab. 92: 3611-3617, 2007.  [PubMed: 17595251, related citations] [Full Text]

ATP5C1_rs1244414
(Mitochondrial ATP Synthase)
Mitochondrial Function

Itoh, H., Takahashi, A., Adachi, K., Noji, H., Yasuda, R., Yoshida, M., Kinosita, K., Jr.  Mechanically driven ATP synthesis by F1-ATPase. Nature 427: 465-468, 2004. [PubMed:  14749837, related citations] [Full Text]

Yoshida, M., Muneyuki, E., Hisabori, T. ATP synthase--a marvellous rotary engine of the cell.  Nature Rev. Molec. Cell Biol. 2: 669-677, 2001. [PubMed: 11533724, related citations] [Full Text]

CRP_rs1205
(C-reactive Protein)
Healthy Inflammatory Response

Carlson, C. S., Aldred, S. F., Lee, P. K., Tracy, R. P., Schwartz, S. M., Rieder, M., Liu, K., Williams, O.  D., Iribarren, C., Lewis, E. C., Fornage, M., Boerwinkle, E., Gross, M., Jaquish, C., Nickerson, D. A.,  Myers, R. M., Siscovick, D. S., Reiner, A. P. Polymorphisms within the C-reactive protein (CRP)  promoter region are associated with plasma CRP levels. Am. J. Hum. Genet. 77: 64-77, 2005.  Note: Erratum: Am. J. Hum. Genet. 82: 251 only, 2008. [PubMed: 15897982, images, related citations]  [Full Text]

Danesh, J., Wheeler, J. G., Hirschfield, G. M., Eda, S., Eiriksdottir, G., Rumley, A., Lowe, G. D. O.,  Pepys, M. B., Gudnason, V. C-reactive protein and other circulating markers of inflammation  in the prediction of coronary heart disease. New Eng. J. Med. 350: 1387- 1397, 2004.  [PubMed:  15070788, related citations] [Full Text]


CYP11B2_rs1799998
(Aldosterone Synthase)
Healthy Blood Pressure

Clyne, C. D., Zhang, Y., Slutsker, L., Mathis, J. M., White, P. C., Rainey, W. E. Angiotensin II and potassium  regulate human CYP11B2 transcription through common cis-elements. Molec. Endocr. 11: 638-649,  1997. [PubMed: 9139807, related citations] [Full Text]

Lim, P. O., Macdonald, T. M., Holloway, C., Friel, E., Anderson, N. H., Dow, E., Jung, R. T., Davies, E.,  Fraser, R., Connell, J. M. C. Variation at the aldosterone synthase (CYP11B2) locus contributes  to hypertension in subjects with a raised aldosterone-to-renin ratio. J. Clin. Endocr. Metab. 87:  4398-4402, 2002. [PubMed: 12213905, related citations] [Full Text]

EPHX1_rs1051740
(Microsomal Epoxide Hydrolase)
Detoxification

Zhu, Q., Xing, W., Qian, B., von Dippe, P., Shneider, B. L., Fox, V. L., Levy, D. Inhibition of human  m-epoxide hydrolase gene expression in a case of hypercholanemia. Biochim. Biophys. Acta  1638: 208-216, 2003. [PubMed: 12878321, related citations] [Full Text]

Zusterzeel, P. L. M., Peters, W. H. M., Visser, W., Hermsen, K. J. M., Roelofs, H. M. J., Steegers,  E. A. P. A polymorphism in the gene for microsomal epoxide hydrolase is associated with  pre-eclampsia. J. Med. Genet. 38: 234-237, 2001. [PubMed: 11283205, related citations] [Full Text]

FTO_rs9939609/ rs1121980 (Alpha-ketoglutarate-dependent dioxygenase FTO)
Healthy Weight Management

Church, C., Moir, L., McMurray, F., Girard, C., Banks, G. T., Teboul, L., Wells, S., Bruning, J. C., Nolan,  P. M., Ashcroft, F. M., Cox, R. D. Overexpression of FTO leads to increased food intake and results  in obesity. Nature Genet. 42: 1086-1092, 2010. [PubMed: 21076408, images, related citations] [Full Text]

Dina, C., Meyre, D., Gallina, S., Durand, E., Korner, A., Jacobson, P., Carlsson, L. M. S., Kiess, W.,  Vatin, V., Lecoeur, C., Delplanque, J., Vaillant, E., and 15 others. Variation in FTO contributes to  childhood obesity and severe adult obesity. Nature Genet. 39: 724-726, 2007. Note: Erratum:  Nature Genet. 39: 1285 only, 2007. [PubMed: 17496892, related citations] [Full Text]

FUT2_rs602662
(Galactoside 2-alpha-L-fucosyltransferase 2)
Vitamin B12

Hazra, A., Kraft, P., Selhub, J., Giovannucci, E. L., Thomas, G., Hoover, R. N., Chanock, S. J., Hunter,  D. J. Common variants of FUT2 are associated with plasma vitamin B12 levels. Nature Genet. 40:  1160-1162, 2008. [PubMed: 18776911, related citations] [Full Text]

McGovern, D. P. B., Jones, M. R., Taylor, K. D., Marciante, K., Yan, X., Dubinsky, M., Ippoliti, A.,  Vasiliauskas, E., Berel, D., Derkowski, C., Dutridge, D., International IBD Genetics Consortium, and  10 others. Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn’s disease.  Hum. Molec. Genet. 19: 3468-3476, 2010. [PubMed: 20570966, related citations] [Full Text]


GSTP1_rs1695
(Glutathione S-transferase P1)
Oxidative Stress Support

Wilk, J. B., Tobin, J. E., Suchowersky, O., Shill, H. A., Klein, C., Wooten, G. F., Lew, M. F., Mark, M. H.,  Guttman, M., Watts, R. L., Singer, C., Growdon, J. H., and 26 others. Herbicide exposure modifies  GSTP1 haplotype association to Parkinson onset age: the GenePD study. Neurology 67: 2206-  2210, 2006. [PubMed: 17190945, related citations] [Full Text]

Gilliland, F. D., Li, Y.-F., Saxon, A., Diaz-Sanchez, D. Effect of glutathione-S-transferase M1 and P1  genotypes on xenobiotic enhancement of allergic responses: randomised, placebo-controlled  crossover study. Lancet 363: 119-125, 2004. [PubMed: 14726165, related citations] [Full Text]

IL6_rs1800795
(Interleukin 6)
Healthy Immune System

Harker, J. A., Lewis, G. M., Mack, L., Zuniga, E. I. Late interleukin-6 escalates T follicular helper cell  responses and controls a chronic viral infection. Science 334: 825-829, 2011. [PubMed: 21960530,  images, related citations] [Full Text]

Kiecolt-Glaser, J. K., Preacher, K. J., MacCullum, R. C., Atkinson, C., Malarkey, W. B., Glaser, R.  Chronic stress and age-related increases in the proinflammatory cytokine IL-6. Proc. Nat.  Acad. Sci. 100: 9090-9095, 2003. [PubMed: 12840146, images, related citations] [Full Text]

MTHFR_rs1801133 /rs1801131
(Methylene Tetrahydrofolate Reductase)
Homocysteine Folate

Friso, S., Choi, S.-W., Girelli, D., Mason, J. B., Dolnikowski, G. G., Bagley, P. J., Olivieri, O., Jacques, P. F.,  Rosenberg, I. H., Corrocher, R., Selhub, J. A common mutation in the 5,10-methylenetetrahydrofolate  reductase gene affects genomic DNA methylation through an interaction with folate status. Proc.  Nat. Acad. Sci. 99: 5606-5611, 2002. [PubMed: 11929966, images, related citations] [Full Text]

Hustad, S., Midttun, O., Schneede, J., Vollset, S. E., Grotmol, T., Ueland, P. M. The  methylenetetrahydrofolate reductase 677C-T polymorphism as a modulator of a B vitamin  network with major effects on homocysteine metabolism. Am. J. Hum. Genet. 80: 846-855,  2007. [PubMed: 17436239, images, related citations] [Full Text]

MTRR_rs1801394
(Methionine Synthase Reductase)
Homocysteine Healthy Heart

Wilson, A., Platt, R., Wu, Q., Leclerc, D., Christensen, B., Yang, H., Gravel, R. A., Rozen, R. A  common variant in methionine synthase reductase combined with low cobalamin (vitamin B12)  increases risk for spina bifida. Molec. Genet. Metab. 67: 317-323, 1999. [PubMed: 10444342, related  citations] [Full Text]

O’Leary, V. B., Mills, J. L., Pangilinan, F., Kirke, P. N., Cox, C., Conley, M., Weiler, A., Peng, K., Shane, B.,  Scott, J. M., Parle-McDermott, A., Molloy, A. M., Brody, L. C. Members of the Birth Defects Research  Group: Analysis of methionine synthase reductase polymorphisms for neural tube defects risk  association. Molec. Genet. Metab. 85: 220-227, 2005. [PubMed: 15979034, related citations] [Full Text]

NQ01_rs1800566
(Coenzyme Q10 Reductase)
CoQ10 Energy

Benson, A. M., Hunkeler, M. J., Talalay, P. Increase of NAD(P)H:quinone reductase by dietary antioxidants: possible role in protection against carcinogenesis and toxicity. Proc. Nat. Acad. Sci. 77:  5216-5220, 1980. [PubMed: 6933553, related citations] [Full Text]

Fagerholm, R., Hofstetter, B., Tommiska, J., Aaltonen, K., Vrtel, R., Syrjakoski, K., Kallioniemi, A.,  Kilpivaara, O., Mannermaa, A., Kosma, V.-M., Uusitupa, M., Eskelinen, M., Kataja, V., Aittomaki, K.,  von Smitten, K., Heikkila, P., Lukas, J., Holli, K., Bartkova, J., Blomqvist, C., Bartek, J., Nevanlinna,  H. NAD(P)H:quinone oxidoreductase 1 NQO1*2 genotype (P187S) is a strong prognostic and  predictive factor in breast cancer. Nature Genet. 40: 844-853, 2008. [PubMed: 18511948, related  citations] [Full Text]

PON1_rs662
(Paraoxonase-1)
Lipid Oxidation Support

Chen, Q., Reis, S. E., Kammerer, C. M., McNamara, D. M., Holubkov, R., Sharaf, B. L., Sopko, G.,  Pauly, D. F., Merz, C. N. B., Kamboh, M. I. Association between the severity of angiographic  coronary artery disease and paraoxonase gene polymorphisms in the National Heart, Lung,  and Blood Institute-Sponsored Women’s Ischemia Syndrome Evaluation (WISE) Study. Am. J.  Hum. Genet. 72: 13-22, 2003. [PubMed: 12454802, related citations] [Full Text]

Paolisso, G., Manzella, D., Tagliamonte, M. R., Barbieri, M., Marfella, R., Zito, G., Bonafe, M., Giugliano,  D., Franceschi, C., Varricchio, M. The BB-paraoxonase genotype is associated with impaired brachial  reactivity after acute hypertriglyceridemia in healthy subjects. J. Clin. Endocr. Metab. 86: 1078-  1082, 2001. [PubMed: 11238489, related citations] [Full Text]

SOD2_rs4880
(Manganese Superoxide Dismutase)
Free Radical Defense

Bastaki, M., Huen, K., Manzanillo, P., Chande, N., Chen, C., Balmes, J. R., Tager, I. B., Holland, N.  Genotype-activity relationship for Mn-superoxide dismutase, glutathione peroxidase 1 and  catalase in humans. Pharmacogenet. Genomics 16: 279-286, 2006. [PubMed: 16538174, related  citations] [Full Text]

Church, S. L., Grant, J. W., Meese, E. U., Trent, J. M. Sublocalization of the gene encoding  manganese superoxide dismutase (MnSOD/SOD2) to 6q25 by fluorescence in situ hybridization  and somatic cell hybrid mapping. Genomics 14: 823-825, 1992. [PubMed: 1427917, related citations]  [Full Text]

TNF-a_rs1800629
(Tumor Necrosis Factor-alpha)
Healthy Inflammatory Response

Shin, H. D., Park, B. L., Kim, L. H., Jung, J. H., Wang, H. J., Kim, Y. J., Park, H.S., Hong, S.J., Choi, B.  W., Kim, D.J., Park, C.S. Association of tumor necrosis factor polymorphisms with asthma and serum  total IgE. Hum. Molec. Genet. 13: 397-403, 2004. PubMed: 14681301, related citations] [Full Text]

Ramos, E. M., Lin, M.T., Larson, E. B., Maezawa, I., Tseng, L.H., Edwards, K. L., Schellenberg,  G. D., Hansen, J. A., Kukull, W. A., Jin, L.W. Tumor necrosis factor a interleukin 10 promoter  region polymorphisms and risk of late onset Alzheimer disease. Arch. Neurol. 63: 1165-1169,  2006. [PubMed: 16908746, related citations] [Full Text

VDR_rs2228570
(Vitamin D Receptor)
Vitamin D Receptor

Colin, E. M., Uitterlinden, A. G., Meurs, J. B. J., Bergink, A. P., van de Klift, M., Fang, Y., Arp,  P. P., Hofman, A., van Leeuwen, J. P. T. M., Pols, H. A. P. Interaction between vitamin D receptor  genotype and estrogen receptor alpha genotype influences vertebral fracture risk. J. Clin.  Endocr. Metab. 88: 3777-3784, 2003. [PubMed: 12915669, related citations] [Full Text]

Liu, P. T., Stenger, S., Li, H., Wenzel, L., Tan, B. H., Krutzik, S. R., Ochoa, M. T., Schauber, J., Wu, K.,  Meinken, C., Kamen, D. L., Wagner, M., and 10 others. Toll-like receptor triggering of a vitamin  D-mediated human antimicrobial response. Science 311: 1770-1773, 2006. [PubMed: 16497887,  related citations] [Full Text]