Format

Send to:

Choose Destination
See comment in PubMed Commons below
Nat Genet. 2008 Jun;40(6):695-701. doi: 10.1038/ng.f.136.

Common and rare variants in multifactorial susceptibility to common diseases.

Author information

  • 1Cancer and Immunogenetics Laboratory, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK. walter.bodmer@hertford.ox.ac.uk

Abstract

Here, we give a historical overview of the search for genetic variants that influence the susceptibility of an individual to a chronic disease, from RA Fisher's seminal work to the current excitement of whole-genome association studies (WGAS). We then discuss the concepts behind the identification of common variants as disease causal factors and contrast them to the basic ideas that underlie the rare variant hypothesis. The identification of rare variants involves the careful selection of candidate genes to examine, the availability of highly efficient resequencing techniques and the appropriate assessment of the functional consequences of the implicated variant. We believe that this strategy can be successfully applied at present in order to unravel the contribution of rare variants to the multifactorial inheritance of common diseases, which could lead to the implementation of much needed preventative screening schemes.

PMID:
18509313
[PubMed - indexed for MEDLINE]
PMCID:
PMC2527050
Free PMC Article
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Nature Publishing Group Icon for PubMed Central
    Loading ...
    Write to the Help Desk