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PMID: 19481926 Published · ppublish English Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Review

Common vs. rare allele hypotheses for complex diseases.

Current opinion in genetics & development ·Vol. 19 ·No. 3 ·2009-06-00 ·Pages 212-9

Schork NJ, Murray SS, Frazer KA, Topol EJ

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.

MeSH Terms
Alleles Base Sequence Gene Frequency Genetic Predisposition to Disease/genetics Genetic Variation/genetics Genome-Wide Association Study Humans Molecular Sequence Data Mutation Phenotype
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Schork Nicholas J
Scripps Genomic Medicine, and Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA 92037, United States. nschork@scripps.edu
Murray Sarah S
Frazer Kelly A
Topol Eric J
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Article Info
Journal
Current opinion in genetics & development
Abbr.
Curr Opin Genet Dev
ISSN
1879-0380
DOI
10.1016/j.gde.2009.04.010
Email
nschork@scripps.edu
Published
2009-06-00
Epub
2009-00-28
Pages
212-9
Language
English
Region
England
NLM ID
9111375
PMCID
PMC2914559
Subset
IM
Grants
NIMH NIH HHS · R01 MH078151 · United States
NIA NIH HHS · U19 AG023122 · United States
NIDA NIH HHS · U01 DA024417 · United States
NIDA NIH HHS · U01 DA024417-01 · United States
NCRR NIH HHS · U54 RR0252204-01 · United States
NIDA NIH HHS · U01 DA024417-03 · United States
NIMH NIH HHS · N01 MH022005 · United States
NIMH NIH HHS · R01 MH078151-01A1 · United States
NCRR NIH HHS · UL1 RR025774 · United States
NCRR NIH HHS · UL1 RR025774-02 · United States
NIA NIH HHS · U19 AG023122-01 · United States
NIMH NIH HHS · R01 MH078151-03 · United States
NIA NIH HHS · U19 AG023122-05 · United States
NIMH NIH HHS · P50 MH081755-02 · United States
NIMH NIH HHS · P50 MH081755-01 · United States
NIMH NIH HHS · P50 MH081755 · United States
NIMH NIH HHS · R01 MH094483 · United States
External Links
PubMed source DOI: 10.1016/j.gde.2009.04.010 PMC Full Text View journal details
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