Identification, replication, and functional fine-mapping of expression quantitative trait loci in primary human liver tissue.

ABSTRACT: The discovery of expression quantitative trait loci ("eQTLs") can help to unravel genetic contributions to complex traits. We identified genetic determinants of human liver gene expression variation using two independent collections of primary tissue profiled with Agilent (n = 206) and Illumina (n = 60) expression arrays and Illumina SNP genotyping (550K), and we also incorporated data from a published study (n = 266). We found that ∼30% of SNP-expression correlations in one study failed to replicate in either of the others, even at thresholds yielding high reproducibility in simulations, and we quantified numerous factors affecting reproducibility. Our data suggest that drug exposure, clinical descriptors, and unknown factors associated with tissue ascertainment and analysis have substant

SUBMITTER: Innocenti F 

PROVIDER: S-EPMC3102751 | biostudies-literature | 2011 May

REPOSITORIES: biostudies-literature