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

Variation (Genetics)

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Disease relevance of Variation (Genetics)


Psychiatry related information on Variation (Genetics)


High impact information on Variation (Genetics)


Chemical compound and disease context of Variation (Genetics)


Biological context of Variation (Genetics)


Anatomical context of Variation (Genetics)

  • These data suggest a continuum of resistance conferred by NK cell inhibition to susceptibility involving NK cell activation in the development of cervical neoplasia and underscore the pervasive influence of KIR/HLA genetic variation in human disease pathogenesis [25].
  • Substantially less genetic variation has been recognized in studies of the proteins of nucleated cells by the technique of two-dimensional polyacrylamide gel electrophoresis than has been encountered in studies of serum transport proteins and erythrocyte enzymes with one-dimensional electrophoresis [26].
  • We have investigated the extent of genetic variation and the number of germ-line heavy-chain-variable (VH) genes to obtain information on the organization and repertoire of the VH genes [27].
  • Here, we demonstrate that genetic variation in the rate of thymic involution correlates with genetic variation in the responsiveness of hematopoietic stem and progenitor cells to TGF-beta2 [28].
  • These findings support the hypothesis of a germinal center B cell-derived origin of NLPHL, indicate a significant role of BCL6 in the pathogenesis of NLPHL, and provide further evidence of the genetic diversity underlying the pathogenesis of NLPHL and cHL [29].

Associations of Variation (Genetics) with chemical compounds


Gene context of Variation (Genetics)


Analytical, diagnostic and therapeutic context of Variation (Genetics)


  1. Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus. Horikawa, Y., Oda, N., Cox, N.J., Li, X., Orho-Melander, M., Hara, M., Hinokio, Y., Lindner, T.H., Mashima, H., Schwarz, P.E., del Bosque-Plata, L., Horikawa, Y., Oda, Y., Yoshiuchi, I., Colilla, S., Polonsky, K.S., Wei, S., Concannon, P., Iwasaki, N., Schulze, J., Baier, L.J., Bogardus, C., Groop, L., Boerwinkle, E., Hanis, C.L., Bell, G.I. Nat. Genet. (2000) [Pubmed]
  2. Association between apolipoprotein E epsilon4 and sleep-disordered breathing in adults. Kadotani, H., Kadotani, T., Young, T., Peppard, P.E., Finn, L., Colrain, I.M., Murphy, G.M., Mignot, E. JAMA (2001) [Pubmed]
  3. Association of prostate cancer risk with genetic polymorphisms in vitamin D receptor and androgen receptor. Ingles, S.A., Ross, R.K., Yu, M.C., Irvine, R.A., La Pera, G., Haile, R.W., Coetzee, G.A. J. Natl. Cancer Inst. (1997) [Pubmed]
  4. Variable region diversity in human circulating antibodies specific for the capsular polysaccharide of Haemophilus influenzae type b. Preferential usage of two types of VH3 heavy chains. Silverman, G.J., Lucas, A.H. J. Clin. Invest. (1991) [Pubmed]
  5. Genetic diversity and HIV detection by polymerase chain reaction. Loussert-Ajaka, I., Descamps, D., Simon, F., Brun-Vézinet, F., Ekwalanga, M., Saragosti, S. Lancet (1995) [Pubmed]
  6. Association between polymorphism in regulatory region of gene encoding tumour necrosis factor alpha and risk of Alzheimer's disease and vascular dementia: a case-control study. McCusker, S.M., Curran, M.D., Dynan, K.B., McCullagh, C.D., Urquhart, D.D., Middleton, D., Patterson, C.C., McIlroy, S.P., Passmore, A.P. Lancet (2001) [Pubmed]
  7. Polymorphism of alcohol and aldehyde dehydrogenase genes and alcoholic cirrhosis in Chinese patients. Chao, Y.C., Liou, S.R., Chung, Y.Y., Tang, H.S., Hsu, C.T., Li, T.K., Yin, S.J. Hepatology (1994) [Pubmed]
  8. The human serotonin 7 (5-HT7) receptor gene: genomic organization and systematic mutation screening in schizophrenia and bipolar affective disorder. Erdmann, J., Nöthen, M.M., Shimron-Abarbanell, D., Rietschel, M., Albus, M., Borrmann, M., Maier, W., Franzek, E., Körner, J., Weigelt, B., Fimmers, R., Propping, P. Mol. Psychiatry (1996) [Pubmed]
  9. Mu opioid receptor gene variants: lack of association with alcohol dependence. Bergen, A.W., Kokoszka, J., Peterson, R., Long, J.C., Virkkunen, M., Linnoila, M., Goldman, D. Mol. Psychiatry (1997) [Pubmed]
  10. Exclusion of the 5-HT1A serotonin neuroreceptor and tryptophan oxygenase genes in a large British kindred multiply affected with Tourette's syndrome, chronic motor tics, and obsessive-compulsive behavior. Brett, P.M., Curtis, D., Robertson, M.M., Gurling, H.M. The American journal of psychiatry. (1995) [Pubmed]
  11. Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration. Gold, B., Merriam, J.E., Zernant, J., Hancox, L.S., Taiber, A.J., Gehrs, K., Cramer, K., Neel, J., Bergeron, J., Barile, G.R., Smith, R.T., Hageman, G.S., Dean, M., Allikmets, R., Chang, S., Yannuzzi, L.A., Merriam, J.C., Barbazetto, I., Lerner, L.E., Russell, S., Hoballah, J., Hageman, J., Stockman, H. Nat. Genet. (2006) [Pubmed]
  12. Genetic variation in selenoprotein S influences inflammatory response. Curran, J.E., Jowett, J.B., Elliott, K.S., Gao, Y., Gluschenko, K., Wang, J., Abel Azim, D.M., Cai, G., Mahaney, M.C., Comuzzie, A.G., Dyer, T.D., Walder, K.R., Zimmet, P., MacCluer, J.W., Collier, G.R., Kissebah, A.H., Blangero, J. Nat. Genet. (2005) [Pubmed]
  13. Genetic evidence for a higher female migration rate in humans. Seielstad, M.T., Minch, E., Cavalli-Sforza, L.L. Nat. Genet. (1998) [Pubmed]
  14. Variations in the NRAMP1 gene and susceptibility to tuberculosis in West Africans. Bellamy, R., Ruwende, C., Corrah, T., McAdam, K.P., Whittle, H.C., Hill, A.V. N. Engl. J. Med. (1998) [Pubmed]
  15. The extent of genetic variation in the CCR5 gene. Ansari-Lari, M.A., Liu, X.M., Metzker, M.L., Rut, A.R., Gibbs, R.A. Nat. Genet. (1997) [Pubmed]
  16. Polymorphisms and haplotypes in folate-metabolizing genes and risk of non-Hodgkin lymphoma. Skibola, C.F., Forrest, M.S., Coppedé, F., Agana, L., Hubbard, A., Smith, M.T., Bracci, P.M., Holly, E.A. Blood (2004) [Pubmed]
  17. Cytomegalovirus genotypes present in cerebrospinal fluid of HIV-infected patients. Steininger, C., Schmied, B., Sarcletti, M., Geit, M., Puchhammer-Stöckl, E. AIDS (2005) [Pubmed]
  18. Paraoxonase-2 gene (PON2) G148 variant associated with elevated fasting plasma glucose in noninsulin-dependent diabetes mellitus. Hegele, R.A., Connelly, P.W., Scherer, S.W., Hanley, A.J., Harris, S.B., Tsui, L.C., Zinman, B. J. Clin. Endocrinol. Metab. (1997) [Pubmed]
  19. Relationship between ABCA1 genetic variation and HDL cholesterol level in subjects with ischemic heart diseases in Japanese. Takagi, S., Iwai, N., Miyazaki, S., Nonogi, H., Goto, Y. Thromb. Haemost. (2002) [Pubmed]
  20. Renal disease susceptibility and hypertension are under independent genetic control in the fawn-hooded rat. Brown, D.M., Provoost, A.P., Daly, M.J., Lander, E.S., Jacob, H.J. Nat. Genet. (1996) [Pubmed]
  21. Somatic microsatellite mutations as molecular tumor clocks. Shibata, D., Navidi, W., Salovaara, R., Li, Z.H., Aaltonen, L.A. Nat. Med. (1996) [Pubmed]
  22. Naturally occurring variation in bristle number and DNA polymorphisms at the scabrous locus of Drosophila melanogaster. Lai, C., Lyman, R.F., Long, A.D., Langley, C.H., Mackay, T.F. Science (1994) [Pubmed]
  23. The molecular organization of the H-2K region of two t-haplotypes: implications for the evolution of genetic diversity. Uehara, H., Abe, K., Park, C.H., Shin, H.S., Bennett, D., Artzt, K. EMBO J. (1987) [Pubmed]
  24. Human dysbindin (DTNBP1) gene expression in normal brain and in schizophrenic prefrontal cortex and midbrain. Weickert, C.S., Straub, R.E., McClintock, B.W., Matsumoto, M., Hashimoto, R., Hyde, T.M., Herman, M.M., Weinberger, D.R., Kleinman, J.E. Arch. Gen. Psychiatry (2004) [Pubmed]
  25. Hierarchy of resistance to cervical neoplasia mediated by combinations of killer immunoglobulin-like receptor and human leukocyte antigen loci. Carrington, M., Wang, S., Martin, M.P., Gao, X., Schiffman, M., Cheng, J., Herrero, R., Rodriguez, A.C., Kurman, R., Mortel, R., Schwartz, P., Glass, A., Hildesheim, A. J. Exp. Med. (2005) [Pubmed]
  26. Average locus differences in mutability related to protein "class": a hypothesis. Neel, J.V. Proc. Natl. Acad. Sci. U.S.A. (1990) [Pubmed]
  27. Analysis of genetic variation reveals human immunoglobulin VH-region gene organization. Walter, M.A., Cox, D.W. Am. J. Hum. Genet. (1988) [Pubmed]
  28. Transforming growth factor-beta2 is involved in quantitative genetic variation in thymic involution. Kumar, R., Langer, J.C., Snoeck, H.W. Blood (2006) [Pubmed]
  29. Frequent occurrence of BCL6 rearrangements in nodular lymphocyte predominance Hodgkin lymphoma but not in classical Hodgkin lymphoma. Wlodarska, I., Nooyen, P., Maes, B., Martin-Subero, J.I., Siebert, R., Pauwels, P., De Wolf-Peeters, C., Hagemeijer, A. Blood (2003) [Pubmed]
  30. Genetic variation in susceptibility to endocrine disruption by estrogen in mice. Spearow, J.L., Doemeny, P., Sera, R., Leffler, R., Barkley, M. Science (1999) [Pubmed]
  31. Informed consent for population-based research involving genetics. Beskow, L.M., Burke, W., Merz, J.F., Barr, P.A., Terry, S., Penchaszadeh, V.B., Gostin, L.O., Gwinn, M., Khoury, M.J. JAMA (2001) [Pubmed]
  32. Amygdala-prefrontal coupling depends on a genetic variation of the serotonin transporter. Heinz, A., Braus, D.F., Smolka, M.N., Wrase, J., Puls, I., Hermann, D., Klein, S., Grüsser, S.M., Flor, H., Schumann, G., Mann, K., Büchel, C. Nat. Neurosci. (2005) [Pubmed]
  33. Characterization and clonal distribution of four alleles of the speA gene encoding pyrogenic exotoxin A (scarlet fever toxin) in Streptococcus pyogenes. Nelson, K., Schlievert, P.M., Selander, R.K., Musser, J.M. J. Exp. Med. (1991) [Pubmed]
  34. Genetic variation in ABC transporter A1 contributes to HDL cholesterol in the general population. Frikke-Schmidt, R., Nordestgaard, B.G., Jensen, G.B., Tybjaerg-Hansen, A. J. Clin. Invest. (2004) [Pubmed]
  35. 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. Chen, Q., Reis, S.E., Kammerer, C.M., McNamara, D.M., Holubkov, R., Sharaf, B.L., Sopko, G., Pauly, D.F., Merz, C.N., Kamboh, M.I. Am. J. Hum. Genet. (2003) [Pubmed]
  36. Mapping the genetic variation of executive attention onto brain activity. Fan, J., Fossella, J., Sommer, T., Wu, Y., Posner, M.I. Proc. Natl. Acad. Sci. U.S.A. (2003) [Pubmed]
  37. PTPN22 genetic variation: evidence for multiple variants associated with rheumatoid arthritis. Carlton, V.E., Hu, X., Chokkalingam, A.P., Schrodi, S.J., Brandon, R., Alexander, H.C., Chang, M., Catanese, J.J., Leong, D.U., Ardlie, K.G., Kastner, D.L., Seldin, M.F., Criswell, L.A., Gregersen, P.K., Beasley, E., Thomson, G., Amos, C.I., Begovich, A.B. Am. J. Hum. Genet. (2005) [Pubmed]
  38. CARD15 genetic variation in a Quebec population: prevalence, genotype-phenotype relationship, and haplotype structure. Vermeire, S., Wild, G., Kocher, K., Cousineau, J., Dufresne, L., Bitton, A., Langelier, D., Pare, P., Lapointe, G., Cohen, A., Daly, M.J., Rioux, J.D. Am. J. Hum. Genet. (2002) [Pubmed]
  39. Genetic variation at the 22q11 PRODH2/DGCR6 locus presents an unusual pattern and increases susceptibility to schizophrenia. Liu, H., Heath, S.C., Sobin, C., Roos, J.L., Galke, B.L., Blundell, M.L., Lenane, M., Robertson, B., Wijsman, E.M., Rapoport, J.L., Gogos, J.A., Karayiorgou, M. Proc. Natl. Acad. Sci. U.S.A. (2002) [Pubmed]
  40. Genetic studies of low-abundance human plasma proteins. XIII. Population genetics of C1R complement subcomponent and description of new variants. Kamboh, M.I., Lyons, L.A., Ferrell, R.E. Am. J. Hum. Genet. (1989) [Pubmed]
  41. Two-dimensional electrophoresis of plasma polypeptides reveals "high" heterozygosity indices. Rosenblum, B.B., Neel, J.V., Hanash, S.M. Proc. Natl. Acad. Sci. U.S.A. (1983) [Pubmed]
  42. Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation. Kan, Y.W., Dozy, A.M. Proc. Natl. Acad. Sci. U.S.A. (1978) [Pubmed]
  43. Case-control study and transmission disequilibrium test provide consistent evidence for association between schizophrenia and genetic variation in the 22q11 gene ZDHHC8. Chen, W.Y., Shi, Y.Y., Zheng, Y.L., Zhao, X.Z., Zhang, G.J., Chen, S.Q., Yang, P.D., He, L. Hum. Mol. Genet. (2004) [Pubmed]
  44. Transcortin Leuven: a variant of human corticosteroid-binding globulin with decreased cortisol-binding affinity. Van Baelen, H., Brepoels, R., De Moor, P. J. Biol. Chem. (1982) [Pubmed]
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