4.4 Review

Common vs. rare allele hypotheses for complex diseases

Journal

CURRENT OPINION IN GENETICS & DEVELOPMENT
Volume 19, Issue 3, Pages 212-219

Publisher

CURRENT BIOLOGY LTD
DOI: 10.1016/j.gde.2009.04.010

Keywords

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Funding

  1. NCRR NIH HHS [UL1 RR025774-02, U54 RR0252204-01, UL1 RR025774] Funding Source: Medline
  2. NIA NIH HHS [U19 AG023122, U19 AG023122-05, U19 AG023122-01] Funding Source: Medline
  3. NIDA NIH HHS [U01 DA024417-03, U01 DA024417-01, U01 DA024417] Funding Source: Medline
  4. NIMH NIH HHS [R01 MH094483, R01 MH078151-03, R01 MH078151, N01MH22005, P50 MH081755, R01 MH078151-01A1, P50 MH081755-02, P50 MH081755-01, N01 MH022005] Funding Source: Medline

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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.

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