title: Consensus Genome-Wide Expression Quantitative Trait Loci and Their Relationship with Human Complex Trait Disease.
abstract: Most of the risk loci identified from genome-wide association (GWA) studies do not provide direct information on the biological basis of a disease or on the underlying mechanisms. Recent expression quantitative trait locus (eQTL) association studies have provided information on genetic factors associated with gene expression variation. These eQTLs might contribute to phenotype diversity and disease susceptibility, but interpretation is handicapped by low reproducibility of the expression results. To address this issue, we have generated a set of consensus eQTLs by integrating publicly available data for specific human populations and cell types. Overall, we find over 4000 genes that are involved in high-confidence eQTL relationships. To elucidate the role that eQTLs play in human common diseases, we matched the high-confidence eQTLs to a set of 335 disease risk loci identified from the Wellcome Trust Case Control Consortium GWA study and follow-up studies for 7 human complex trait diseases-bipolar disorder (BD), coronary artery disease (CAD), Crohn's disease (CD), hypertension (HT), rheumatoid arthritis (RA), type 1 diabetes (T1D), and type 2 diabetes (T2D). The results show that the data are consistent with ∼50% of these disease loci arising from an underlying expression change mechanism.
authors.affiliation: 1 Institute for Bioscience and Biotechnology Research, University of Maryland , Rockville, Maryland.|2 Molecular and Cell Biology Concentration Area, Biological Sciences Graduate Program, University of Maryland , College Park, Maryland.
authors.forename: Chen-Hsin
authors.initials: CH
authors.lastname: Yu
authors.affiliation: 1 Institute for Bioscience and Biotechnology Research, University of Maryland , Rockville, Maryland.
authors.forename: Lipika R
authors.initials: LR
authors.lastname: Pal
authors.affiliation: 1 Institute for Bioscience and Biotechnology Research, University of Maryland , Rockville, Maryland.|3 Department of Cell Biology and Molecular Genetics, University of Maryland , College Park, Maryland.
authors.forename: John
authors.initials: J
authors.lastname: Moult
mesh_terms: D001172:Arthritis, Rheumatoid / Q000235:genetics; D001714:Bipolar Disorder / Q000235:genetics; D003324:Coronary Artery Disease / Q000235:genetics; D003424:Crohn Disease / Q000235:genetics; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D055106:Genome-Wide Association Study / Q000379:methods*; D006801:Humans; D040641:Quantitative Trait Loci / Q000235:genetics*