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


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Disease relevance of Genotype


Psychiatry related information on Genotype


High impact information on Genotype


Chemical compound and disease context of Genotype


Biological context of Genotype


Anatomical context of Genotype

  • To determine whether p63/6.9 is a direct gene product of the T/t complex, testicular cytoplasmic RNA from mice bearing the genotypes +/+, +/t and t/t was translated in a rabbit reticulocyte-derived cell-free system, and translated products were analyzed by two-dimensional gel electrophoresis [25].
  • By means of analysis of alpha-fetoprotein expression in livers of embryo aggregation chimeras derived from mice of different raf genotypes it was possible to conclude that the product of the raf locus is expressed as a hepatocyte autonomous function that acts in trans to regulate the level of alpha-fetoprotein messenger RNA [26].
  • Cytotoxic T-cell responses in mice infected with influenza and vaccinia viruses vary in magnitude with H-2 genotype [27].
  • Contrasting genetic effects of KIR/HLA combinations have been observed in infectious and autoimmune diseases, where genotypes associated with NK cell activation seem to be protective or to confer susceptibility, respectively [28].
  • However, mice with an IMPDH II(+/-), HPRT(-/o) genotype demonstrate significantly decreased lymphocyte responsiveness to stimulation with anti-CD3 and anti-CD28 antibodies and show a 30% mean reduction in GTP levels in lymphocytes activated by these antibodies [29].

Associations of Genotype with chemical compounds

  • RESULTS: The B1 variant of the CETP gene was associated with both higher plasma CETP concentrations (mean [+/-SD], 2.29+/-0.62 microg per milliliter for the B1B1 genotype vs. 1.76+/-0.51 microg per milliliter for the B2B2 genotype) and lower HDL cholesterol concentrations (34+/-8 vs. 39+/-10 mg per deciliter) [30].
  • We intercrossed mice heterozygous for two null alleles (Irs1+/- and Irs2+/-) and investigated growth and glucose metabolism in mice with viable genotypes [31].
  • Among patients with HCV genotype 1 infection, the best response occurred in those who were treated for 48 weeks with interferon and ribavirin [32].
  • The frequencies of the carbamoyl-phosphate synthetase genotypes in the study population were assessed for Hardy-Weinberg equilibrium [33].
  • Aldosterone and ANP concentrations are not affected by the genotype [34].

Gene context of Genotype

  • We have also identified a unique combination of the ACT/AA and APOE 4/4 genotypes as a potential susceptibility marker for AD, as its frequency was 1/17 in the AD group compared to 1/313 in the general population control [35].
  • Although cumulative mortality is similar regardless of the genotype, the percentage of cardiac events that are lethal is significantly higher in families with mutations at the LQT3 locus [36].
  • By correlating the fates of Z1.ppp and with the lin-12 genotype of nearly every cell in these mosaics, we conclude that lin-12 function is VU cell autonomous [37].
  • The fetus, semiallograft by its genotype, escapes maternal allorecognition by downregulation of HLA-A and HLA-B molecules at this interface [38].
  • The GSTM1 and GSTT1 genotypes were not associated with survival or clinical response [39].

Analytical, diagnostic and therapeutic context of Genotype


  1. Variants of ENPP1 are associated with childhood and adult obesity and increase the risk of glucose intolerance and type 2 diabetes. Meyre, D., Bouatia-Naji, N., Tounian, A., Samson, C., Lecoeur, C., Vatin, V., Ghoussaini, M., Wachter, C., Hercberg, S., Charpentier, G., Patsch, W., Pattou, F., Charles, M.A., Tounian, P., Clément, K., Jouret, B., Weill, J., Maddux, B.A., Goldfine, I.D., Walley, A., Boutin, P., Dina, C., Froguel, P. Nat. Genet. (2005) [Pubmed]
  2. A mutation in CFTR produces different phenotypes depending on chromosomal background. Kiesewetter, S., Macek, M., Davis, C., Curristin, S.M., Chu, C.S., Graham, C., Shrimpton, A.E., Cashman, S.M., Tsui, L.C., Mickle, J. Nat. Genet. (1993) [Pubmed]
  3. A prospective study of asymptomatic bacteriuria in sexually active young women. Hooton, T.M., Scholes, D., Stapleton, A.E., Roberts, P.L., Winter, C., Gupta, K., Samadpour, M., Stamm, W.E. N. Engl. J. Med. (2000) [Pubmed]
  4. Angiotensin-converting-enzyme genotype and ischemic heart disease. Meyer, B.R., Vashishtha, A. N. Engl. J. Med. (1995) [Pubmed]
  5. Mutations of the cystic fibrosis gene in patients with chronic pancreatitis. Sharer, N., Schwarz, M., Malone, G., Howarth, A., Painter, J., Super, M., Braganza, J. N. Engl. J. Med. (1998) [Pubmed]
  6. Preclinical evidence of Alzheimer's disease in persons homozygous for the epsilon 4 allele for apolipoprotein E. Reiman, E.M., Caselli, R.J., Yun, L.S., Chen, K., Bandy, D., Minoshima, S., Thibodeau, S.N., Osborne, D. N. Engl. J. Med. (1996) [Pubmed]
  7. Apolipoprotein E, dementia, and cortical deposition of beta-amyloid protein. Polvikoski, T., Sulkava, R., Haltia, M., Kainulainen, K., Vuorio, A., Verkkoniemi, A., Niinistö, L., Halonen, P., Kontula, K. N. Engl. J. Med. (1995) [Pubmed]
  8. Cytochrome P450 2E1 and glutathione S-transferase M1 polymorphisms and susceptibility to hepatocellular carcinoma. Yu, M.W., Gladek-Yarborough, A., Chiamprasert, S., Santella, R.M., Liaw, Y.F., Chen, C.J. Gastroenterology (1995) [Pubmed]
  9. 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]
  10. Association between two {micro}-opioid receptor gene (OPRM1) haplotype blocks and drug or alcohol dependence. Zhang, H., Luo, X., Kranzler, H.R., Lappalainen, J., Yang, B.Z., Krupitsky, E., Zvartau, E., Gelernter, J. Hum. Mol. Genet. (2006) [Pubmed]
  11. A functional variant in FCRL3, encoding Fc receptor-like 3, is associated with rheumatoid arthritis and several autoimmunities. Kochi, Y., Yamada, R., Suzuki, A., Harley, J.B., Shirasawa, S., Sawada, T., Bae, S.C., Tokuhiro, S., Chang, X., Sekine, A., Takahashi, A., Tsunoda, T., Ohnishi, Y., Kaufman, K.M., Kang, C.P., Kang, C., Otsubo, S., Yumura, W., Mimori, A., Koike, T., Nakamura, Y., Sasazuki, T., Yamamoto, K. Nat. Genet. (2005) [Pubmed]
  12. Gene-expression profiles in hereditary breast cancer. Hedenfalk, I., Duggan, D., Chen, Y., Radmacher, M., Bittner, M., Simon, R., Meltzer, P., Gusterson, B., Esteller, M., Kallioniemi, O.P., Wilfond, B., Borg, A., Trent, J. N. Engl. J. Med. (2001) [Pubmed]
  13. Mutation in the gene for bone morphogenetic protein receptor II as a cause of primary pulmonary hypertension in a large kindred. Newman, J.H., Wheeler, L., Lane, K.B., Loyd, E., Gaddipati, R., Phillips, J.A., Loyd, J.E. N. Engl. J. Med. (2001) [Pubmed]
  14. Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility. Rovio, A.T., Marchington, D.R., Donat, S., Schuppe, H.C., Abel, J., Fritsche, E., Elliott, D.J., Laippala, P., Ahola, A.L., McNay, D., Harrison, R.F., Hughes, B., Barrett, T., Bailey, D.M., Mehmet, D., Jequier, A.M., Hargreave, T.B., Kao, S.H., Cummins, J.M., Barton, D.E., Cooke, H.J., Wei, Y.H., Wichmann, L., Poulton, J., Jacobs, H.T. Nat. Genet. (2001) [Pubmed]
  15. Association between the T29-->C polymorphism in the transforming growth factor beta1 gene and breast cancer among elderly white women: The Study of Osteoporotic Fractures. Ziv, E., Cauley, J., Morin, P.A., Saiz, R., Browner, W.S. JAMA (2001) [Pubmed]
  16. P-Selectin or intercellular adhesion molecule (ICAM)-1 deficiency substantially protects against atherosclerosis in apolipoprotein E-deficient mice. Collins, R.G., Velji, R., Guevara, N.V., Hicks, M.J., Chan, L., Beaudet, A.L. J. Exp. Med. (2000) [Pubmed]
  17. Determinants of mild clinical symptoms in cystic fibrosis patients. Residual chloride secretion measured in rectal biopsies in relation to the genotype. Veeze, H.J., Halley, D.J., Bijman, J., de Jongste, J.C., de Jonge, H.R., Sinaasappel, M. J. Clin. Invest. (1994) [Pubmed]
  18. Association between sulfotransferase 1A1 genotype and survival of breast cancer patients receiving tamoxifen therapy. Nowell, S., Sweeney, C., Winters, M., Stone, A., Lang, N.P., Hutchins, L.F., Kadlubar, F.F., Ambrosone, C.B. J. Natl. Cancer Inst. (2002) [Pubmed]
  19. Insulin resistance impairs sustained response rate to peginterferon plus ribavirin in chronic hepatitis C patients. Romero-Gómez, M., Del Mar Viloria, M., Andrade, R.J., Salmerón, J., Diago, M., Fernández-Rodríguez, C.M., Corpas, R., Cruz, M., Grande, L., Vázquez, L., Muñoz-De-Rueda, P., López-Serrano, P., Gila, A., Gutiérrez, M.L., Pérez, C., Ruiz-Extremera, A., Suárez, E., Castillo, J. Gastroenterology (2005) [Pubmed]
  20. Novel inheritance of the murine severe combined anemia and thrombocytopenia (Scat) phenotype. Peters, L.L., Barker, J.E. Cell (1993) [Pubmed]
  21. Chromosomal rearrangements which affect the chromosomal integration of the ribosomal genes in Drosophila melanogaster. Zuchowski, C.I., Harford, A.G. Cell (1977) [Pubmed]
  22. A male-female bias in type 1 diabetes and linkage to chromosome Xp in MHC HLA-DR3-positive patients. Cucca, F., Goy, J.V., Kawaguchi, Y., Esposito, L., Merriman, M.E., Wilson, A.J., Cordell, H.J., Bain, S.C., Todd, J.A. Nat. Genet. (1998) [Pubmed]
  23. Tissue localization and chromosomal assignment of a serum protein that tracks the cystic fibrosis gene. van Heyningen, V., Hayward, C., Fletcher, J., McAuley, C. Nature (1985) [Pubmed]
  24. Mutations of the RET proto-oncogene in Hirschsprung's disease. Edery, P., Lyonnet, S., Mulligan, L.M., Pelet, A., Dow, E., Abel, L., Holder, S., Nihoul-Fékété, C., Ponder, B.A., Munnich, A. Nature (1994) [Pubmed]
  25. Cell-free translation of a T/t complex cell surface-associated gene product. Danska, J.S., Silver, L.M. Cell (1980) [Pubmed]
  26. Raf, a trans-acting locus, regulates the alpha-fetoprotein gene in a cell-autonomous manner. Vogt, T.F., Solter, D., Tilghman, S.M. Science (1987) [Pubmed]
  27. Cytotoxic T-cell responses in mice infected with influenza and vaccinia viruses vary in magnitude with H-2 genotype. Doherty, P.C., Biddison, W.E., Bennink, J.R., Knowles, B.B. J. Exp. Med. (1978) [Pubmed]
  28. 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]
  29. Inhibition of T lymphocyte activation in mice heterozygous for loss of the IMPDH II gene. Gu, J.J., Stegmann, S., Gathy, K., Murray, R., Laliberte, J., Ayscue, L., Mitchell, B.S. J. Clin. Invest. (2000) [Pubmed]
  30. The role of a common variant of the cholesteryl ester transfer protein gene in the progression of coronary atherosclerosis. The Regression Growth Evaluation Statin Study Group. Kuivenhoven, J.A., Jukema, J.W., Zwinderman, A.H., de Knijff, P., McPherson, R., Bruschke, A.V., Lie, K.I., Kastelein, J.J. N. Engl. J. Med. (1998) [Pubmed]
  31. Irs-2 coordinates Igf-1 receptor-mediated beta-cell development and peripheral insulin signalling. Withers, D.J., Burks, D.J., Towery, H.H., Altamuro, S.L., Flint, C.L., White, M.F. Nat. Genet. (1999) [Pubmed]
  32. Interferon alfa-2b alone or in combination with ribavirin as initial treatment for chronic hepatitis C. Hepatitis Interventional Therapy Group. McHutchison, J.G., Gordon, S.C., Schiff, E.R., Shiffman, M.L., Lee, W.M., Rustgi, V.K., Goodman, Z.D., Ling, M.H., Cort, S., Albrecht, J.K. N. Engl. J. Med. (1998) [Pubmed]
  33. Neonatal pulmonary hypertension--urea-cycle intermediates, nitric oxide production, and carbamoyl-phosphate synthetase function. Pearson, D.L., Dawling, S., Walsh, W.F., Haines, J.L., Christman, B.W., Bazyk, A., Scott, N., Summar, M.L. N. Engl. J. Med. (2001) [Pubmed]
  34. Salt-resistant hypertension in mice lacking the guanylyl cyclase-A receptor for atrial natriuretic peptide. Lopez, M.J., Wong, S.K., Kishimoto, I., Dubois, S., Mach, V., Friesen, J., Garbers, D.L., Beuve, A. Nature (1995) [Pubmed]
  35. APOE*4-associated Alzheimer's disease risk is modified by alpha 1-antichymotrypsin polymorphism. Kamboh, M.I., Sanghera, D.K., Ferrell, R.E., DeKosky, S.T. Nat. Genet. (1995) [Pubmed]
  36. Influence of genotype on the clinical course of the long-QT syndrome. International Long-QT Syndrome Registry Research Group. Zareba, W., Moss, A.J., Schwartz, P.J., Vincent, G.M., Robinson, J.L., Priori, S.G., Benhorin, J., Locati, E.H., Towbin, J.A., Keating, M.T., Lehmann, M.H., Hall, W.J. N. Engl. J. Med. (1998) [Pubmed]
  37. Cell autonomy of lin-12 function in a cell fate decision in C. elegans. Seydoux, G., Greenwald, I. Cell (1989) [Pubmed]
  38. Human histocompatibility leukocyte antigen (HLA)-G molecules inhibit NKAT3 expressing natural killer cells. Münz, C., Holmes, N., King, A., Loke, Y.W., Colonna, M., Schild, H., Rammensee, H.G. J. Exp. Med. (1997) [Pubmed]
  39. 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]
  40. Polymorphism of adhesion molecule CD31 and its role in acute graft-versus-host disease. Behar, E., Chao, N.J., Hiraki, D.D., Krishnaswamy, S., Brown, B.W., Zehnder, J.L., Grumet, F.C. N. Engl. J. Med. (1996) [Pubmed]
  41. Ornithine decarboxylase as a biologic marker in familial colonic polyposis. Luk, G.D., Baylin, S.B. N. Engl. J. Med. (1984) [Pubmed]
  42. Bromocriptine in the treatment of alcoholics with the D2 dopamine receptor A1 allele. Lawford, B.R., Young, R.M., Rowell, J.A., Qualichefski, J., Fletcher, B.H., Syndulko, K., Ritchie, T., Noble, E.P. Nat. Med. (1995) [Pubmed]
  43. FASL -844C polymorphism is associated with increased activation-induced T cell death and risk of cervical cancer. Sun, T., Zhou, Y., Li, H., Han, X., Shi, Y., Wang, L., Miao, X., Tan, W., Zhao, D., Zhang, X., Guo, Y., Lin, D. J. Exp. Med. (2005) [Pubmed]
  44. Glutamate decarboxylase-, insulin-, and islet cell-antibodies and HLA typing to detect diabetes in a general population-based study of Swedish children. Hagopian, W.A., Sanjeevi, C.B., Kockum, I., Landin-Olsson, M., Karlsen, A.E., Sundkvist, G., Dahlquist, G., Palmer, J., Lernmark, A. J. Clin. Invest. (1995) [Pubmed]
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