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- W2499446507 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." @default.
- W2499446507 created "2016-08-23" @default.
- W2499446507 creator A5004617618 @default.
- W2499446507 creator A5049945298 @default.
- W2499446507 creator A5078102304 @default.
- W2499446507 date "2016-07-01" @default.
- W2499446507 modified "2023-10-18" @default.
- W2499446507 title "Consensus Genome-Wide Expression Quantitative Trait Loci and Their Relationship with Human Complex Trait Disease" @default.
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- W2499446507 doi "https://doi.org/10.1089/omi.2016.0063" @default.
- W2499446507 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4960478" @default.
- W2499446507 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/27428252" @default.
- W2499446507 hasPublicationYear "2016" @default.
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