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

Genetic Load

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Disease relevance of Genetic Load

  • The contribution made by one gene in particular, GJB2, to the genetic load of SNHL has strongly affected the assessment and care of children with hearing loss [1].

High impact information on Genetic Load

  • Assay of locus-specific genetic load implicates rare Toll-like receptor 4 mutations in meningococcal susceptibility [2].
  • Previous studies have usually considered all congenital anomalies (ICD 740-759) as part of the genetic load, but only those judged to fit into one of the above categories were included in the present study [3].
  • Both ADHD and alcohol dependence have a high genetic load and might even share overlapping sources of genetic liability [4].
  • This implies that there is an increased genetic load defined by specific alleles of both MHC and TCR genes [5].
  • A short discussion on a possible genetic load by therapy with Trenimon in man concludes this review [6].

Associations of Genetic Load with chemical compounds

  • One can imagine that the species survived to the increase of genetic load caused by the retroviral invasion because restrictive alleles of flamenco were selected [7].

Gene context of Genetic Load

  • Two genes that make appreciable contributions to the autosomal recessive non-syndromic deafness (ARNSD) genetic load will be reviewed, GJB2 and SLC26A4 [8].
  • Genetic load may also play a role, but presence of epilepsy could be a protective factor [9].


  1. Sensorineural hearing loss in children. Smith, R.J., Bale, J.F., White, K.R. Lancet (2005) [Pubmed]
  2. Assay of locus-specific genetic load implicates rare Toll-like receptor 4 mutations in meningococcal susceptibility. Smirnova, I., Mann, N., Dols, A., Derkx, H.H., Hibberd, M.L., Levin, M., Beutler, B. Proc. Natl. Acad. Sci. U.S.A. (2003) [Pubmed]
  3. Genetic disorders in children and young adults: a population study. Baird, P.A., Anderson, T.W., Newcombe, H.B., Lowry, R.B. Am. J. Hum. Genet. (1988) [Pubmed]
  4. Comorbidity of alcohol dependence with attention-deficit hyperactivity disorder: differences in phenotype with increased severity of the substance disorder, but not in genotype (serotonin transporter and 5-hydroxytryptamine-2c receptor). Johann, M., Bobbe, G., Putzhammer, A., Wodarz, N. Alcohol. Clin. Exp. Res. (2003) [Pubmed]
  5. T-cell receptor BV6S1 null alleles and HLA-DR1 haplotypes in polyarticular outcome juvenile rheumatoid arthritis. Grom, A.A., von Knorre, C., Murray, K.J., Donnelly, P.A., Glass, D.N., Choi, E. Hum. Immunol. (1996) [Pubmed]
  6. Trenimon: biochemical, physiological and genetic effects on cells and organisms. Obe, G., Beek, B. Mutat. Res. (1979) [Pubmed]
  7. About the origin of retroviruses and the co-evolution of the gypsy retrovirus with the Drosophila flamenco host gene. Pélisson, A., Teysset, L., Chalvet, F., Kim, A., Prud'homme, N., Terzian, C., Bucheton, A. Genetica (1997) [Pubmed]
  8. Genetic testing for deafness--GJB2 and SLC26A4 as causes of deafness. Smith, R.J., Robin, N.H. Journal of communication disorders. (2002) [Pubmed]
  9. Psychotic disorder and traumatic brain injury. Zhang, Q., Sachdev, P.S. Current psychiatry reports. (2003) [Pubmed]
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