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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

Polymorphism, Genetic

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Disease relevance of Polymorphism, Genetic


Psychiatry related information on Polymorphism, Genetic


High impact information on Polymorphism, Genetic

  • Taken together, these data suggest that the Sipa1 polymorphism is one of the genetic polymorphisms underlying the Mtes1 locus [11].
  • A genetic polymorphism of paraoxonase (PON) activity which determines high versus low paraoxon hydrolysis in human populations, may determine sensitivity to parathion poisoning [12].
  • Recently, three genetic polymorphisms of human metabolic oxidation have been demonstrated (as characterized by debrisoquine, mephenytoin and carbocysteine), with the metabolism of several substrates exhibiting the phenomenon [13].
  • Class I polypeptides expressed at the H-2K and H-2D loci of numerous mouse strains exhibit an unusually high degree of genetic polymorphism, which is assumed to be related to their function as primary recognition elements in the immune response [14].
  • The occurrence of insulin-dependent (type I) diabetes (IDDM) is strongly associated with HLA-DR3 and/or 4 (ref. 5). The class II antigens, however, show a marked genetic polymorphism associated with the beta-chains which seem, from hybridization studies, to be encoded by several genes [15].

Chemical compound and disease context of Polymorphism, Genetic


Biological context of Polymorphism, Genetic


Anatomical context of Polymorphism, Genetic


Associations of Polymorphism, Genetic with chemical compounds


Gene context of Polymorphism, Genetic


Analytical, diagnostic and therapeutic context of Polymorphism, Genetic


  1. Methylation pharmacogenetics: catechol O-methyltransferase, thiopurine methyltransferase, and histamine N-methyltransferase. Weinshilboum, R.M., Otterness, D.M., Szumlanski, C.L. Annu. Rev. Pharmacol. Toxicol. (1999) [Pubmed]
  2. Population-based, case-control study of HER2 genetic polymorphism and breast cancer risk. Xie, D., Shu, X.O., Deng, Z., Wen, W.Q., Creek, K.E., Dai, Q., Gao, Y.T., Jin, F., Zheng, W. J. Natl. Cancer Inst. (2000) [Pubmed]
  3. Association between glutathione S-transferase P1, T1, and M1 genetic polymorphism and survival of patients with metastatic colorectal cancer. Stoehlmacher, J., Park, D.J., Zhang, W., Groshen, S., Tsao-Wei, D.D., Yu, M.C., Lenz, H.J. J. Natl. Cancer Inst. (2002) [Pubmed]
  4. Population and family studies of three disease-related polymorphic genes in systemic lupus erythematosus. Huang, D.F., Siminovitch, K.A., Liu, X.Y., Olee, T., Olsen, N.J., Berry, C., Carson, D.A., Chen, P.P. J. Clin. Invest. (1995) [Pubmed]
  5. Prospective study of coronary heart disease incidence in relation to fasting total homocysteine, related genetic polymorphisms, and B vitamins: the Atherosclerosis Risk in Communities (ARIC) study. Folsom, A.R., Nieto, F.J., McGovern, P.G., Tsai, M.Y., Malinow, M.R., Eckfeldt, J.H., Hess, D.L., Davis, C.E. Circulation (1998) [Pubmed]
  6. Prediction of heterogeneity in intelligence and adult prognosis by genetic polymorphisms in the dopamine system among children with attention-deficit/hyperactivity disorder: evidence from 2 birth cohorts. Mill, J., Caspi, A., Williams, B.S., Craig, I., Taylor, A., Polo-Tomas, M., Berridge, C.W., Poulton, R., Moffitt, T.E. Arch. Gen. Psychiatry (2006) [Pubmed]
  7. Catechol O-methyltransferase genetic polymorphism in panic disorder. Woo, J.M., Yoon, K.S., Yu, B.H. The American journal of psychiatry. (2002) [Pubmed]
  8. Comparative sequencing and association studies of aromatic L-amino acid decarboxylase in schizophrenia and bipolar disorder. Speight, G., Turic, D., Austin, J., Hoogendoorn, B., Cardno, A.G., Jones, L., Murphy, K.C., Sanders, R., McCarthy, G., Jones, I., McCandless, F., McGuffin, P., Craddock, N., Owen, M.J., Buckland, P., O'Donovan, M.C. Mol. Psychiatry (2000) [Pubmed]
  9. Competition of Abeta amyloid peptide and apolipoprotein E for receptor-mediated endocytosis. Winkler, K., Scharnagl, H., Tisljar, U., Hoschützky, H., Friedrich, I., Hoffmann, M.M., Hüttinger, M., Wieland, H., März, W. J. Lipid Res. (1999) [Pubmed]
  10. Neuropsychiatric symptoms in the dementias. Assal, F., Cummings, J.L. Curr. Opin. Neurol. (2002) [Pubmed]
  11. Sipa1 is a candidate for underlying the metastasis efficiency modifier locus Mtes1. Park, Y.G., Zhao, X., Lesueur, F., Lowy, D.R., Lancaster, M., Pharoah, P., Qian, X., Hunter, K.W. Nat. Genet. (2005) [Pubmed]
  12. The molecular basis of the human serum paraoxonase activity polymorphism. Humbert, R., Adler, D.A., Disteche, C.M., Hassett, C., Omiecinski, C.J., Furlong, C.E. Nat. Genet. (1993) [Pubmed]
  13. Metabolic oxidation phenotypes as markers for susceptibility to lung cancer. Ayesh, R., Idle, J.R., Ritchie, J.C., Crothers, M.J., Hetzel, M.R. Nature (1984) [Pubmed]
  14. A potential donor gene for the bm1 gene conversion event in the C57BL mouse. Mellor, A.L., Weiss, E.H., Ramachandran, K., Flavell, R.A. Nature (1983) [Pubmed]
  15. HLA-D region beta-chain DNA endonuclease fragments differ between HLA-DR identical healthy and insulin-dependent diabetic individuals. Owerbach, D., Lernmark, A., Platz, P., Ryder, L.P., Rask, L., Peterson, P.A., Ludvigsson, J. Nature (1983) [Pubmed]
  16. Association of aldehyde dehydrogenase 2 gene polymorphism with multiple oesophageal dysplasia in head and neck cancer patients. Muto, M., Hitomi, Y., Ohtsu, A., Ebihara, S., Yoshida, S., Esumi, H. Gut (2000) [Pubmed]
  17. Pharmacogenetics of acute azathioprine toxicity: relationship to thiopurine methyltransferase genetic polymorphism. Lennard, L., Van Loon, J.A., Weinshilboum, R.M. Clin. Pharmacol. Ther. (1989) [Pubmed]
  18. Angiotensin converting enzyme genetic polymorphism is not associated with hypertension in a cross-sectional sample of a Japanese population: the Shibata Study. Zaman, M.M., Yoshiike, N., Date, C., Yokoyama, T., Matsumura, Y., Ikemoto, S., Tanaka, H. J. Hypertens. (2001) [Pubmed]
  19. The S-acetyl coenzyme A-dependent metabolic activation of the carcinogen N-hydroxy-2-aminofluorene by human liver cytosol and its relationship to the aromatic amine N-acetyltransferase phenotype. Flammang, T.J., Yamazoe, Y., Guengerich, F.P., Kadlubar, F.F. Carcinogenesis (1987) [Pubmed]
  20. Contribution of cytochrome P450 2D6 to 3,4-methylenedioxymethamphetamine disposition in humans: use of paroxetine as a metabolic inhibitor probe. Segura, M., Farré, M., Pichini, S., Peiró, A.M., Roset, P.N., Ramírez, A., Ortuño, J., Pacifici, R., Zuccaro, P., Segura, J., de la Torre, R. Clinical pharmacokinetics. (2005) [Pubmed]
  21. A genetic polymorphism in the renin gene of Dahl rats cosegregates with blood pressure. Rapp, J.P., Wang, S.M., Dene, H. Science (1989) [Pubmed]
  22. Functional complementation of the ste6 gene of Saccharomyces cerevisiae with the pfmdr1 gene of Plasmodium falciparum. Volkman, S.K., Cowman, A.F., Wirth, D.F. Proc. Natl. Acad. Sci. U.S.A. (1995) [Pubmed]
  23. Family studies of mephenytoin hydroxylation deficiency. Inaba, T., Jurima, M., Kalow, W. Am. J. Hum. Genet. (1986) [Pubmed]
  24. Detection of genetic variation with radioactive ligands. III. genetic polymorphism of transcobalamin II in human plasma. Daiger, S.P., Labowe, M.L., Parsons, M., Wang, L., Cavalli-Sforza, L.L. Am. J. Hum. Genet. (1978) [Pubmed]
  25. An extensive search for RFLP in the human glucose-6-phosphate dehydrogenase locus has revealed a silent mutation in the coding sequence. D'Urso, M., Luzzatto, L., Perroni, L., Ciccodicola, A., Gentile, G., Peluso, I., Persico, M.G., Pizzella, T., Toniolo, D., Vulliamy, T.J. Am. J. Hum. Genet. (1988) [Pubmed]
  26. Human lymphocyte polymorphisms detected by quantitative two-dimensional electrophoresis. Goldman, D., Merril, C.R. Am. J. Hum. Genet. (1983) [Pubmed]
  27. Cytidine deaminase: a new genetic polymorphism demonstrated in human granulocytes. Teng, Y.S., Anderson, J.E., Giblett, E.R. Am. J. Hum. Genet. (1975) [Pubmed]
  28. Erythrocyte mean cell volume and genetic polymorphism of aldehyde dehydrogenase 2 in alcohol drinkers. Hashimoto, Y., Nakayama, T., Futamura, A., Omura, M., Nakahara, K. Blood (2002) [Pubmed]
  29. Analysis of the peptide subunits of human neutrophil myeloperoxidase. Nauseef, W.M., Malech, H.L. Blood (1986) [Pubmed]
  30. Methylenetetrahydrofolate reductase polymorphisms increase risk of esophageal squamous cell carcinoma in a Chinese population. Song, C., Xing, D., Tan, W., Wei, Q., Lin, D. Cancer Res. (2001) [Pubmed]
  31. A new NOS2 promoter polymorphism associated with increased nitric oxide production and protection from severe malaria in Tanzanian and Kenyan children. Hobbs, M.R., Udhayakumar, V., Levesque, M.C., Booth, J., Roberts, J.M., Tkachuk, A.N., Pole, A., Coon, H., Kariuki, S., Nahlen, B.L., Mwaikambo, E.D., Lal, A.L., Granger, D.L., Anstey, N.M., Weinberg, J.B. Lancet (2002) [Pubmed]
  32. The Eb beta gene may have acted as the donor gene in a gene conversion-like event generating the Abm 12 beta mutant. Denaro, M., Hammerling, U., Rask, L., Peterson, P.A. EMBO J. (1984) [Pubmed]
  33. Alcohol metabolism in Asian-American men with genetic polymorphisms of aldehyde dehydrogenase. Wall, T.L., Peterson, C.M., Peterson, K.P., Johnson, M.L., Thomasson, H.R., Cole, M., Ehlers, C.L. Ann. Intern. Med. (1997) [Pubmed]
  34. Molecular diagnosis of thiopurine S-methyltransferase deficiency: genetic basis for azathioprine and mercaptopurine intolerance. Yates, C.R., Krynetski, E.Y., Loennechen, T., Fessing, M.Y., Tai, H.L., Pui, C.H., Relling, M.V., Evans, W.E. Ann. Intern. Med. (1997) [Pubmed]
  35. Neurotoxicity of MDMA (ecstasy): the limitations of scaling from animals to humans. de la Torre, R., Farré, M. Trends Pharmacol. Sci. (2004) [Pubmed]
  36. Human lung carcinogen-DNA adduct levels mediated by genetic polymorphisms in vivo. Kato, S., Bowman, E.D., Harrington, A.M., Blomeke, B., Shields, P.G. J. Natl. Cancer Inst. (1995) [Pubmed]
  37. A genetic polymorphism in coumarin 7-hydroxylation: sequence of the human CYP2A genes and identification of variant CYP2A6 alleles. Fernandez-Salguero, P., Hoffman, S.M., Cholerton, S., Mohrenweiser, H., Raunio, H., Rautio, A., Pelkonen, O., Huang, J.D., Evans, W.E., Idle, J.R. Am. J. Hum. Genet. (1995) [Pubmed]
  38. Molecular basis of genetic polymorphism in major histocompatibility complex-linked proteasome gene (Lmp-2). Zhou, P., Cao, H., Smart, M., David, C. Proc. Natl. Acad. Sci. U.S.A. (1993) [Pubmed]
  39. Polymorphisms in alcohol metabolizing enzyme genes and alcoholic cirrhosis in Japanese patients: a multivariate analysis. Yamauchi, M., Maezawa, Y., Mizuhara, Y., Ohata, M., Hirakawa, J., Nakajima, H., Toda, G. Hepatology (1995) [Pubmed]
  40. Quantification of CYP2B7, CYP4B1, and CYPOR messenger RNAs in normal human lung and lung tumors. Czerwinski, M., McLemore, T.L., Gelboin, H.V., Gonzalez, F.J. Cancer Res. (1994) [Pubmed]
  41. Genetic polymorphism of alpha 2HS-glycoprotein. Cox, D.W., Andrews, B.J., Wills, D.E. Am. J. Hum. Genet. (1986) [Pubmed]
  42. Genetic polymorphism of human serum ribonuclease I (RNase I). Yasuda, T., Sato, W., Mizuta, K., Kishi, K. Am. J. Hum. Genet. (1988) [Pubmed]
  43. The classical human phosphoglucomutase (PGM1) isozyme polymorphism is generated by intragenic recombination. March, R.E., Putt, W., Hollyoake, M., Ives, J.H., Lovegrove, J.U., Hopkinson, D.A., Edwards, Y.H., Whitehouse, D.B. Proc. Natl. Acad. Sci. U.S.A. (1993) [Pubmed]
  44. Cellular localization and function of Fas ligand (CD95L) in tumors. Kurooka, M., Nuovo, G.J., Caligiuri, M.A., Nabel, G.J. Cancer Res. (2002) [Pubmed]
  45. Genetic polymorphism of properdin factor B in the rhesus: evidence for single subunit structure in primates. Ziegler, J.B., Watson, L., Alper, C.A. J. Immunol. (1975) [Pubmed]
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