Genetic disease in India and the West compared: provisional analysis of population dynamics

Research note
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Abstract

The Indian Genetic Disease Database (IGDD) and Online Mendelian Inheritance in Man (OMIM) survey human populations that have different climate histories. Comparison of the two shows an outstanding difference in the relative frequency of recessive disease genes. Several of the diseases mediated at least in part by recessive gene mutations in India are not so mediated in the Western populations covered by OMIM, or are so mediated to a lesser extent. This we attribute to climate history, where population fall leading to inbreeding in the last ice age appears to have reduced the frequency of recessive disease genes in the Western world. This ‘ice age benefit’ hypothesis is further confirmed, partially by Kolmogorov–Smirnov analysis.

Keywords

The Indian Genetic Disease Database Online Mendelian Disease in Man recessive dominant population ice age 

References

  1. Atkinson Q. D., Gray R. D. and Drummond A. J. 2008 mtDNA variation predicts population size in humans and reveals a major Southern Asian chapter in human prehistory. Mol. Biol. Evol25, 468–474.CrossRefPubMedGoogle Scholar
  2. Erickson R. P. and Mitchison N. A. 2014 The low frequency of recessive disease: insights from ENU mutagenesis, severity of disease phenotype, GWAS associations, and demography: an analytical review. J. Appl. Genet55, 319–327.CrossRefPubMedGoogle Scholar
  3. Hartong D. T., Berson E. L. and Dryja T. 2006 Retinitis pigmentosa. Lancet 368, 1795–1809.CrossRefPubMedGoogle Scholar
  4. Mitchison N. A., Bhattacharya S. and Tuddenham E. G. 2011 Human congenital diseases with mixed modes of inheritance have a shortage of recessive disease. A demographic scenario? Ann. Hum. Genet75, 688–693.CrossRefPubMedGoogle Scholar

Copyright information

© Indian Academy of Sciences 2018

Authors and Affiliations

  1. 1.University College LondonWC1E 6BTUK
  2. 2.Harvard Medical SchoolBostonUSA

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