Genomewide Association Studies and Human Disease

Genomewide association studies have uncovered many genetic variants that confer susceptibility to disease. This article describes the genomewide association study and new approaches that may address some of its limitations. Genomewide association studies have uncovered many genetic variants that con...

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Bibliographic Details
Published in:The New England journal of medicine Vol. 360; no. 17; pp. 1759 - 1768
Main Authors: Hardy, John, Singleton, Andrew
Format: Journal Article
Language:English
Published: Waltham, MA Massachusetts Medical Society 23.04.2009
Subjects:
Biological and medical sciences
Disease - etiology
Disease - genetics
Environment
Gene Expression
General aspects
Genetic Predisposition to Disease
Genetic Variation
Genome-Wide Association Study - methods
Humans
Medical sciences
Mutation
Human
Medicine
Association
Disease
ISSN:0028-4793, 1533-4406, 1533-4406
Online Access:Get full text
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Summary:Genomewide association studies have uncovered many genetic variants that confer susceptibility to disease. This article describes the genomewide association study and new approaches that may address some of its limitations. Genomewide association studies have uncovered many genetic variants that confer susceptibility to disease. This article describes the genomewide association study and new approaches that may address some of its limitations. For 20 years, genetic linkage combined with positional cloning has offered a rational and increasingly straightforward route to finding gene mutations that lead to monogenic disease, such as cystic fibrosis and Huntington's disease (see the Glossary). With a few important exceptions, these searches have led to mutations that alter the amino acid sequence of a protein and that enormously increase the risk of disease. During the past few years, genomewide association studies have identified a large number of robust associations between specific chromosomal loci and complex human disease, such as type 2 diabetes and rheumatoid arthritis 1 (Figure 1). This approach . . .
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ISSN:0028-4793
1533-4406
1533-4406
DOI:10.1056/NEJMra0808700