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Curr Opin Genet Dev. 2009 Jun;19(3):212-9. doi: 10.1016/j.gde.2009.04.010. Epub 2009 May 28.

Common vs. rare allele hypotheses for complex diseases.

Author information

  • 1Scripps Genomic Medicine, and Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA 92037, United States. nschork@scripps.edu

Abstract

There has been growing debate over the nature of the genetic contribution to individual susceptibility to common complex diseases such as diabetes, osteoporosis, and cancer. The 'Common Disease, Common Variant (CDCV)' hypothesis argues that genetic variations with appreciable frequency in the population at large, but relatively low 'penetrance' (or the probability that a carrier of the relevant variants will express the disease), are the major contributors to genetic susceptibility to common diseases. The 'Common Disease, Rare Variant (CDRV)' hypothesis, on the contrary, argues that multiple rare DNA sequence variations, each with relatively high penetrance, are the major contributors to genetic susceptibility to common diseases. Both hypotheses have their place in current research efforts.

PMID:
19481926
[PubMed - indexed for MEDLINE]
PMCID:
PMC2914559
Free PMC Article
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