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AMIA Jt Summits Transl Sci Proc. 2012;2012:35-41. Epub 2012 Mar 19.

Coanalysis of GWAS with eQTLs reveals disease-tissue associations.

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1
Division of Systems Medicine, Department of Pediatrics, Stanford University School of Medicine, Stanford, CA.

Abstract

Expression quantitative trait loci (eQTL), or genetic variants associated with changes in gene expression, have the potential to assist in interpreting results of genome-wide association studies (GWAS). eQTLs also have varying degrees of tissue specificity. By correlating the statistical significance of eQTLs mapped in various tissue types to their odds ratios reported in a large GWAS by the Wellcome Trust Case Control Consortium (WTCCC), we discovered that there is a significant association between diseases studied genetically and their relevant tissues. This suggests that eQTL data sets can be used to determine tissues that play a role in the pathogenesis of a disease, thereby highlighting these tissue types for further post-GWAS functional studies.

PMID:
22779046
PMCID:
PMC3392070
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