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PMID: 18398418 Published · ppublish English Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Review

Genome-wide association studies for complex traits: consensus, uncertainty and challenges.

Nature reviews. Genetics ·Vol. 9 ·No. 5 ·2008-05-00 ·Pages 356-69

McCarthy MI, Abecasis GR, Cardon LR, Goldstein DB, Little J, Ioannidis JP, Hirschhorn JN

Abstract

The past year has witnessed substantial advances in understanding the genetic basis of many common phenotypes of biomedical importance. These advances have been the result of systematic, well-powered, genome-wide surveys exploring the relationships between common sequence variation and disease predisposition. This approach has revealed over 50 disease-susceptibility loci and has provided insights into the allelic architecture of multifactorial traits. At the same time, much has been learned about the successful prosecution of association studies on such a scale. This Review highlights the knowledge gained, defines areas of emerging consensus, and describes the challenges that remain as researchers seek to obtain more complete descriptions of the susceptibility architecture of biomedical traits of interest and to translate the information gathered into improvements in clinical management.

MeSH Terms
Alleles Animals Genetic Diseases, Inborn/genetics Genetic Predisposition to Disease Genetic Variation Genome, Human Humans Quantitative Trait Loci Quantitative Trait, Heritable
Authors & Affiliations
7 authors, click to expand affiliations / ORCID
McCarthy Mark I
Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK. mark.mccarthy@drl.ox.ac.uk
Abecasis Gonçalo R
Cardon Lon R
Goldstein David B
Little Julian
Ioannidis John P A
Hirschhorn Joel N
Article Info
Journal
Nature reviews. Genetics
Abbr.
Nat Rev Genet
ISSN
1471-0064
Published
2008-05-00
Pages
356-69
Language
English
Region
England
NLM ID
100962779
Subset
IM
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