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]
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: 16497887, related citations] [Full Text]