Integrating pathway analysis and genetics of gene expression for genome-wide association studies.

ABSTRACT: Genome-wide association studies (GWAS) have achieved great success identifying common genetic variants associated with common human diseases. However, to date, the massive amounts of data generated from GWAS have not been maximally leveraged and integrated with other types of data to identify associations beyond those associations that meet the stringent genome-wide significance threshold. Here, we present a novel approach that leverages information from genetics of gene expression studies to identify biological pathways enriched for expression-associated genetic loci associated with disease in publicly available GWAS results. Specifically, we first identify SNPs in population-based human cohorts that associate with the expression of genes (eSNPs) in the metabolically active tissues liver,

SUBMITTER: Zhong H 

PROVIDER: S-EPMC2850442 | biostudies-literature | 2010 Apr

REPOSITORIES: biostudies-literature