title: Common vs. rare allele hypotheses for complex diseases.
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.
authors.affiliation: Scripps Genomic Medicine, and Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA 92037, United States. nschork@scripps.edu
authors.forename: Nicholas J
authors.initials: NJ
authors.lastname: Schork
authors.forename: Sarah S
authors.initials: SS
authors.lastname: Murray
authors.forename: Kelly A
authors.initials: KA
authors.lastname: Frazer
authors.forename: Eric J
authors.initials: EJ
authors.lastname: Topol
mesh_terms: D000483:Alleles; D001483:Base Sequence; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D014644:Genetic Variation / Q000235:genetics*; D055106:Genome-Wide Association Study; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D010641:Phenotype