Journal Article

Genome-wide association studies: potential next steps on a genetic journey

Mark I. McCarthy and Joel N. Hirschhorn

in Human Molecular Genetics

Volume 17, issue R2, pages R156-R165
Published in print October 2008 | ISSN: 0964-6906
Published online October 2008 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/ddn289
Genome-wide association studies: potential next steps on a genetic journey

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Genome-wide association studies have successfully identified numerous loci at which common variants influence disease risk or quantitative traits. Despite these successes, the variants identified by these studies have generally explained only a small fraction of the heritable component of disease risk, and have not pinpointed with certainty the causal variant(s) at the associated loci. Furthermore, the mechanisms of action by which associated loci influence disease or quantitative phenotypes are often unclear, because we do not know through which gene(s) the associated variants exert their effects or because these gene(s) are of unknown function or have no clear connection to known disease biology. Thus, the initial set of genome-wide association studies serve as a starting point for future genetic and functional studies. We outline possible next steps that may help accelerate progress from genetic studies to the biological knowledge that can guide the development of predictive, preventive, or therapeutic measures.

Journal Article.  7176 words.  Illustrated.

Subjects: Genetics and Genomics

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