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November 2009 Replication in Genome-Wide Association Studies
Peter Kraft, Eleftheria Zeggini, John P. A. Ioannidis
Statist. Sci. 24(4): 561-573 (November 2009). DOI: 10.1214/09-STS290


Replication helps ensure that a genotype-phenotype association observed in a genome-wide association (GWA) study represents a credible association and is not a chance finding or an artifact due to uncontrolled biases. We discuss prerequisites for exact replication, issues of heterogeneity, advantages and disadvantages of different methods of data synthesis across multiple studies, frequentist vs. Bayesian inferences for replication, and challenges that arise from multi-team collaborations. While consistent replication can greatly improve the credibility of a genotype-phenotype association, it may not eliminate spurious associations due to biases shared by many studies. Conversely, lack of replication in well-powered follow-up studies usually invalidates the initially proposed association, although occasionally it may point to differences in linkage disequilibrium or effect modifiers across studies.


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Peter Kraft. Eleftheria Zeggini. John P. A. Ioannidis. "Replication in Genome-Wide Association Studies." Statist. Sci. 24 (4) 561 - 573, November 2009.


Published: November 2009
First available in Project Euclid: 20 April 2010

zbMATH: 1329.62429
MathSciNet: MR2779344
Digital Object Identifier: 10.1214/09-STS290

Rights: Copyright © 2009 Institute of Mathematical Statistics


Vol.24 • No. 4 • November 2009
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