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

Gene Frequency

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Disease relevance of Gene Frequency

  • The ability to detect zeta-globin chains may be useful in populations in which the gene frequency of the greater than 17.5-kb deletion is high, for screening couples at risk of having offspring with homozygous alpha-thalassemia [1].
  • The HindIII PgR gene RFLP did not display typical mendelian distribution in the breast tumors; the factors affecting the HindIII allele frequencies are presently unknown [2].
  • RESULTS: Only the B1 receptor promoter polymorphism (G-699-->C) exhibited a significantly different allele frequency between the two groups (prevalence of the C allele of 5.7% in patients with IBD compared with 33.6% in controls; P = 0.0002) or between the controls and either etiologic subgroup (ulcerative colitis and Crohn's disease) [3].
  • The gene frequency for slow and fast electrophoretic variants of complement C3 in Caucasian individuals with cystic fibrosis was similar to the values expected for unaffected controls, thereby ruling out a suspected differential involvement of these phenotypes with the disease [4].
  • Estimates of the gene frequency of BRCA1 and its contribution to breast and ovarian cancer incidence [5].

Psychiatry related information on Gene Frequency


High impact information on Gene Frequency

  • The mutations show a combined allele frequency of approximately 4% in populations of European ancestry, explaining the high incidence of ichthyosis vulgaris [11].
  • Human population studies have revealed extremely high allele frequencies for several different pyrin mutations, leading to the conclusion that the mutant alleles confer a selective advantage [12].
  • Here we show that a mutant allele of CCR-5 is present at a high frequency in caucasian populations (allele frequency, 0.092), but is absent in black populations from Western and Central Africa and Japanese populations [13].
  • DATA SOURCES--We considered data from all published reports of DRD2 allele frequency in alcoholics, controls, or both [14].
  • No significant differences in either D2/Taq I or PCR-SSCP allele frequencies were observed between alcoholics, subpopulations of alcoholics, or controls [15].

Chemical compound and disease context of Gene Frequency


Biological context of Gene Frequency


Anatomical context of Gene Frequency


Associations of Gene Frequency with chemical compounds


Gene context of Gene Frequency

  • The allele frequency of the APOE-epsilon 4 in 30 random affected patients, each from a different Alzheimer disease family, was 0.50 +/- 0.06; the allele frequency of APOE-epsilon 4 in 91 age-matched unrelated controls was 0.16 +/- 0.03 (Z = 2.44, P = 0.014) [35].
  • However, IFNA2 is the only locus that has been carefully analyzed concerning gene frequency, and only naturally occurring rare alleles have been found [36].
  • The PRB2/1 gene is relatively frequent in several populations of unrelated individuals, including American blacks (n = 41), American Utah whites (n = 76), and mainland Chinese (n = 131), with gene frequencies of .22, .06, and .09, respectively [37].
  • Comparisons of gene frequencies in ALL case and control patients showed similar frequencies (54% vs 53% GSTM1 null in whites, P =.9; 40% versus 32% in blacks, P =.45; 16% versus 15% GSTT1 null in whites, P =.8; 17% versus 28% in blacks, P =.3) [38].
  • The LIPC -514C allele frequency was 0.516 (blacks) and 0.796 (whites) [39].

Analytical, diagnostic and therapeutic context of Gene Frequency


  1. Embryonic zeta-globin chains in adults: a marker for alpha-thalassemia-1 haplotype due to a greater than 17.5-kb deletion. Chui, D.H., Wong, S.C., Chung, S.W., Patterson, M., Bhargava, S., Poon, M.C. N. Engl. J. Med. (1986) [Pubmed]
  2. Progesterone receptor gene restriction fragment length polymorphisms in human breast tumors. Fuqua, S.A., Hill, S.M., Chamness, G.C., Benedix, M.G., Greene, G.L., O'Malley, B.W., McGuire, W.L. J. Natl. Cancer Inst. (1991) [Pubmed]
  3. Altered frequency of a promoter polymorphic allele of the kinin B1 receptor gene in inflammatory bowel disease. Bachvarov, D.R., Landry, M., Houle, S., Paré, P., Marceau, F. Gastroenterology (1998) [Pubmed]
  4. Distribution of complement C3 variants in individuals with cystic fibrosis. Lederberg, S., Sackett, D. Am. J. Hum. Genet. (1976) [Pubmed]
  5. Estimates of the gene frequency of BRCA1 and its contribution to breast and ovarian cancer incidence. Ford, D., Easton, D.F., Peto, J. Am. J. Hum. Genet. (1995) [Pubmed]
  6. Apolipoprotein E epsilon4 and the risk of dementia with stroke. A population-based investigation. Slooter, A.J., Tang, M.X., van Duijn, C.M., Stern, Y., Ott, A., Bell, K., Breteler, M.M., Van Broeckhoven, C., Tatemichi, T.K., Tycko, B., Hofman, A., Mayeux, R. JAMA (1997) [Pubmed]
  7. No association between apolipoprotein E epsilon 4 allele and rate of decline in Alzheimer's disease. Murphy, G.M., Taylor, J., Kraemer, H.C., Yesavage, J., Tinklenberg, J.R. The American journal of psychiatry. (1997) [Pubmed]
  8. MAO-A and COMT polymorphisms and gene effects in narcolepsy. Dauvilliers, Y., Neidhart, E., Lecendreux, M., Billiard, M., Tafti, M. Mol. Psychiatry (2001) [Pubmed]
  9. Functional PAX-6 gene-linked polymorphic region: potential association with paranoid schizophrenia. Stöber, G., Syagailo, Y.V., Okladnova, O., Jungkunz, G., Knapp, M., Beckmann, H., Lesch, K.P. Biol. Psychiatry (1999) [Pubmed]
  10. No association between D2 dopamine receptor (DRD2) "A" system alleles, or DRD2 haplotypes, and posttraumatic stress disorder. Gelernter, J., Southwick, S., Goodson, S., Morgan, A., Nagy, L., Charney, D.S. Biol. Psychiatry (1999) [Pubmed]
  11. Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Smith, F.J., Irvine, A.D., Terron-Kwiatkowski, A., Sandilands, A., Campbell, L.E., Zhao, Y., Liao, H., Evans, A.T., Goudie, D.R., Lewis-Jones, S., Arseculeratne, G., Munro, C.S., Sergeant, A., O'Regan, G., Bale, S.J., Compton, J.G., DiGiovanna, J.J., Presland, R.B., Fleckman, P., McLean, W.H. Nat. Genet. (2006) [Pubmed]
  12. Episodic evolution of pyrin in primates: human mutations recapitulate ancestral amino acid states. Schaner, P., Richards, N., Wadhwa, A., Aksentijevich, I., Kastner, D., Tucker, P., Gumucio, D. Nat. Genet. (2001) [Pubmed]
  13. Resistance to HIV-1 infection in caucasian individuals bearing mutant alleles of the CCR-5 chemokine receptor gene. Samson, M., Libert, F., Doranz, B.J., Rucker, J., Liesnard, C., Farber, C.M., Saragosti, S., Lapoumeroulie, C., Cognaux, J., Forceille, C., Muyldermans, G., Verhofstede, C., Burtonboy, G., Georges, M., Imai, T., Rana, S., Yi, Y., Smyth, R.J., Collman, R.G., Doms, R.W., Vassart, G., Parmentier, M. Nature (1996) [Pubmed]
  14. The A1 allele at the D2 dopamine receptor gene and alcoholism. A reappraisal. Gelernter, J., Goldman, D., Risch, N. JAMA (1993) [Pubmed]
  15. Population and pedigree studies reveal a lack of association between the dopamine D2 receptor gene and alcoholism. Bolos, A.M., Dean, M., Lucas-Derse, S., Ramsburg, M., Brown, G.L., Goldman, D. JAMA (1990) [Pubmed]
  16. Carrier testing in hemophilia B with an immunoassay that distinguishes a prevalent factor IX dimorphism. Smith, K.J., Thompson, A.R., McMullen, B.A., Frazier, D., Lin, S.W., Stafford, D., Kisiel, W., Thibodeau, S.N., Chen, S.H., Smith, L.F. Blood (1987) [Pubmed]
  17. Expression and therapeutic response related to apolipoprotein E polymorphism in primary biliary cirrhosis. Vuoristo, M., Färkkilä, M., Gylling, H., Karvonen, A.L., Leino, R., Lehtola, J., Makinen, J., Mattila, J., Tilvis, R., Miettinen, T.A. J. Hepatol. (1997) [Pubmed]
  18. Shifts in angiotensin I converting enzyme insertion allele frequency across Europe: implications for Alzheimer's disease risk. Panza, F., Solfrizzi, V., D'Introno, A., Colacicco, A.M., Capurso, C., Capurso, A., Kehoe, P.G. J. Neurol. Neurosurg. Psychiatr. (2003) [Pubmed]
  19. HLA and C4 in subacute sclerosing panencephalitis. Harada, F., Onisawa, S., Suzuki, K., Matsumoto, H., Sasazuki, T. Tissue Antigens (1987) [Pubmed]
  20. Genetic polymorphisms of platelet adhesive molecules: association with breast cancer risk and clinical presentation. Ayala, F., Corral, J., González-Conejero, R., Sánchez, I., Moraleda, J.M., Vicente, V. Breast Cancer Res. Treat. (2003) [Pubmed]
  21. No association between an allele at the D2 dopamine receptor gene (DRD2) and alcoholism. Gelernter, J., O'Malley, S., Risch, N., Kranzler, H.R., Krystal, J., Merikangas, K., Kennedy, J.L., Kidd, K.K. JAMA (1991) [Pubmed]
  22. The effect of HFE genotypes on measurements of iron overload in patients attending a health appraisal clinic. Beutler, E., Felitti, V., Gelbart, T., Ho, N. Ann. Intern. Med. (2000) [Pubmed]
  23. Toll-like receptor 4 polymorphisms are associated with resistance to Legionnaires' disease. Hawn, T.R., Verbon, A., Janer, M., Zhao, L.P., Beutler, B., Aderem, A. Proc. Natl. Acad. Sci. U.S.A. (2005) [Pubmed]
  24. Association between an angiotensinogen microsatellite marker in children and coronary events in their grandparents. Badenhop, R.F., Wang, X.L., Wilcken, D.E. Circulation (1996) [Pubmed]
  25. Evidence for a susceptibility gene (SLEH1) on chromosome 11q14 for systemic lupus erythematosus (SLE) families with hemolytic anemia. Kelly, J.A., Thompson, K., Kilpatrick, J., Lam, T., Nath, S.K., Gray-McGuire, C., Reid, J., Namjou, B., Aston, C.E., Bruner, G.R., Scofield, R.H., Harley, J.B. Proc. Natl. Acad. Sci. U.S.A. (2002) [Pubmed]
  26. Serological markers and HLA genes among healthy first-degree relatives of patients with coeliac disease. Mäki, M., Holm, K., Lipsanen, V., Hällström, O., Viander, M., Collin, P., Savilahti, E., Koskimies, S. Lancet (1991) [Pubmed]
  27. Polymorphism of the methionine synthase gene : association with homocysteine metabolism and late-onset vascular diseases in the Japanese population. Morita, H., Kurihara, H., Sugiyama, T., Hamada, C., Kurihara, Y., Shindo, T., Oh-hashi, Y., Yazaki, Y. Arterioscler. Thromb. Vasc. Biol. (1999) [Pubmed]
  28. Distribution of the HindIII restriction fragment length polymorphism among patients with systemic lupus erythematosus with different concentrations of CR1. Satoh, H., Yokota, E., Tokiyama, K., Kawaguchi, T., Niho, Y. Ann. Rheum. Dis. (1991) [Pubmed]
  29. Isolation and characterization of 14 CA-repeat microsatellites from human chromosome 21. Bosch, A., Nunes, V., Patterson, D., Estivill, X. Genomics (1993) [Pubmed]
  30. Gene frequencies of human neutrophil antigens in the Tunisian blood donors and Berbers. Abid, S., Zili, M., Bouzid, L., Kibech, R., Foudhaili, N., Joudi, K., Ren Regaya, Z., Abdennaji, B., Mrad, R., Boukef, K. Tissue Antigens (2001) [Pubmed]
  31. Polymorphisms of the 5' leader cistron of the human beta2-adrenergic receptor regulate receptor expression. McGraw, D.W., Forbes, S.L., Kramer, L.A., Liggett, S.B. J. Clin. Invest. (1998) [Pubmed]
  32. A986S polymorphism of the calcium-sensing receptor and circulating calcium concentrations. Cole, D.E., Peltekova, V.D., Rubin, L.A., Hawker, G.A., Vieth, R., Liew, C.C., Hwang, D.M., Evrovski, J., Hendy, G.N. Lancet (1999) [Pubmed]
  33. Short-range genetic structure of Drosophila melanogaster populations in an Afrotropical urban area and its significance. Vouidibio, J., Capy, P., Defaye, D., Pla, E., Sandrin, J., Csink, A., David, J.R. Proc. Natl. Acad. Sci. U.S.A. (1989) [Pubmed]
  34. Estimation of the gene frequency of lactate dehydrogenase subunit deficiencies. Maekawa, M., Kanda, S., Sudo, K., Kanno, T. Am. J. Hum. Genet. (1984) [Pubmed]
  35. Apolipoprotein E: high-avidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease. Strittmatter, W.J., Saunders, A.M., Schmechel, D., Pericak-Vance, M., Enghild, J., Salvesen, G.S., Roses, A.D. Proc. Natl. Acad. Sci. U.S.A. (1993) [Pubmed]
  36. Polymorphism in the interferon-alpha gene family. Golovleva, I., Kandefer-Szerszen, M., Beckman, L., Lundgren, E. Am. J. Hum. Genet. (1996) [Pubmed]
  37. PRB2/1 fusion gene: a product of unequal and homologous crossing-over between proline-rich protein (PRP) genes PRB1 and PRB2. Azen, E.A., O'Connell, P., Kim, H.S. Am. J. Hum. Genet. (1992) [Pubmed]
  38. Glutathione S-transferase genotypes, genetic susceptibility, and outcome of therapy in childhood acute lymphoblastic leukemia. Davies, S.M., Bhatia, S., Ross, J.A., Kiffmeyer, W.R., Gaynon, P.S., Radloff, G.A., Robison, L.L., Perentesis, J.P. Blood (2002) [Pubmed]
  39. Hepatic lipase gene variant -514C>T is associated with lipoprotein and insulin sensitivity response to regular exercise: the HERITAGE Family Study. Teran-Garcia, M., Santoro, N., Rankinen, T., Bergeron, J., Rice, T., Leon, A.S., Rao, D.C., Skinner, J.S., Bergman, R.N., Després, J.P., Bouchard, C. Diabetes (2005) [Pubmed]
  40. PGM1 and Gc subtype gene frequencies in a California Hispanic population. Garber, R.A., Delapointe, L., Morris, J.W. Am. J. Hum. Genet. (1983) [Pubmed]
  41. Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms. Clemens, P.R., Fenwick, R.G., Chamberlain, J.S., Gibbs, R.A., de Andrade, M., Chakraborty, R., Caskey, C.T. Am. J. Hum. Genet. (1991) [Pubmed]
  42. Determination of human platelet antigen frequencies in the Dutch population by immunophenotyping and DNA (allele-specific restriction enzyme) analysis. Simsek, S., Faber, N.M., Bleeker, P.M., Vlekke, A.B., Huiskes, E., Goldschmeding, R., von dem Borne, A.E. Blood (1993) [Pubmed]
  43. A new xeroderma pigmentosum group C poly(AT) insertion/deletion polymorphism. Khan, S.G., Metter, E.J., Tarone, R.E., Bohr, V.A., Grossman, L., Hedayati, M., Bale, S.J., Emmert, S., Kraemer, K.H. Carcinogenesis (2000) [Pubmed]
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