Mediation analysis in genome-wide association studies: Current perspectives

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.