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Genome-Wide Association Study in Humans

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Cardiovascular Genomics

Part of the book series: Methods in Molecular Biology™ ((MIMB,volume 573))

Abstract

Genome-wide association studies have opened a new era in the study of the genetic basis of common, multifactorial diseases and traits. Before the introduction of this approach only a handful of common genetic variants showed consistent association for any phenotype. Using genome-wide association, scores of novel and unsuspected loci have been discovered and later replicated for many complex traits. The principle is to genotype a dense set of common genetic variants across the genomes of individuals with phenotypic differences and examine whether genotype is associated with phenotype. Because the last common human ancestor was relatively recent and recombination events are concentrated in focal hotspots, most common variation in the human genome can be surveyed using a few hundred thousand variants acting as proxies for ungenotyped variants. Here, we describe the different steps of genome-wide association studies and use a recent study as example.

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Authors and Affiliations

  1. Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA, USA

    J. Gustav Smith & Christopher Newton-Cheh

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  1. J. Gustav Smith
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  2. Christopher Newton-Cheh
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Editors and Affiliations

  1. Research, Novartis Institute for Biomedical, Health Plaza 1, East Hanover, 07936, U.S.A.

    Keith DiPetrillo

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Smith, J.G., Newton-Cheh, C. (2009). Genome-Wide Association Study in Humans. In: DiPetrillo, K. (eds) Cardiovascular Genomics. Methods in Molecular Biology™, vol 573. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-60761-247-6_14

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  • DOI: https://doi.org/10.1007/978-1-60761-247-6_14

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  • Publisher Name: Humana Press, Totowa, NJ

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