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Mediation analysis in genome-wide association studies: current perspectives

Authors Lutz S, Hokanson J

Received 4 May 2015

Accepted for publication 28 July 2015

Published 11 November 2015 Volume 2015:7 Pages 1—5

DOI https://doi.org/10.2147/OAB.S63643

Checked for plagiarism Yes

Review by Single-blind

Peer reviewer comments 3

Editor who approved publication: Professor Charles Arntzen


Sharon M Lutz,1 John E Hokanson2

1Department of Biostatistics and Informatics, 2Department of Epidemiology, University of Colorado, Anschutz Medical Campus, Aurora, CO, USA

Abstract: In the course of genome-wide association studies (GWAS) over the last decade, genetic associations of the same locus with multiple phenotypes (eg, pleiotropy) have been observed. Pleiotropy may represent either common or distinct biological pathways. Mediation analysis provides insight into interpreting the pleiotropy identified through GWAS as either shared or distinct effects. In this paper, we will discuss mediation analysis for genetic effects, the challenges and limitations associated with these methods, and the importance of mediation analysis in the GWAS era.

Keywords: mediation analysis, genome-wide association studies, pleiotropy

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