Abstract:
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Blood cell traits are important intermediate clinical phenotypes for many diseases. These traits, including red blood cell count, hemoglobin, white blood cell count and platelet count, are highly heritable. Over 100 associated genetic loci for these traits have been identified using conventional association method in recent genome-wide association studies (GWASs). Despite the large number of loci identified, the biological mechanism underlying these associations remain largely uncharted. We apply PrediXcan to perform gene-based association method. Specifically we first estimate the genetically determined component of gene expression by leveraging publicly available eQTL datasets and then associate the imputed expression with blood cell traits. We anticipate both replication of known genes associated with blood cell traits as well as discovery of novel genes missed by single variant and rare variant analysis solely at the genomic level.
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