Exploring regulation in tissues with eQTL networks
Résumé
Significance A core tenet in genetics is that genotype influences phenotype. In an individual, the same genome can be expressed in substantially different ways, depending on the tissue. Expression quantitative trait locus (eQTL) analysis, which associates genetic variants at millions of locations across the genome with the expression levels of each gene, can provide insight into genetic regulation of phenotype. In each of 13 tissues we performed an eQTL analysis, represented significant associations as edges in a network, and explored the structure of those networks. We found clusters of eQTL linked to shared functions across tissues and tissue-specific clusters linked to tissue-specific functions, driven by genetic variants with tissue-specific regulatory potential. Our findings provide unique insight into the genotype–phenotype relationship.