publication . Other literature type . Article . 2009

Common vs. rare allele hypotheses for complex diseases.

Eric Topol; Nicholas J. Schork; Kelly A Frazer;
Open Access English
  • Published: 01 Jun 2009
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 other hand, argues that multiple rare DNA sequence variations, each with relatively high penetrance, a...
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