Maps of open chromatin guide the functional follow-up of genome-wide association signals: application to hematological traits.

ABSTRACT: Turning genetic discoveries identified in genome-wide association (GWA) studies into biological mechanisms is an important challenge in human genetics. Many GWA signals map outside exons, suggesting that the associated variants may lie within regulatory regions. We applied the formaldehyde-assisted isolation of regulatory elements (FAIRE) method in a megakaryocytic and an erythroblastoid cell line to map active regulatory elements at known loci associated with hematological quantitative traits, coronary artery disease, and myocardial infarction. We showed that the two cell types exhibit distinct patterns of open chromatin and that cell-specific open chromatin can guide the finding of functional variants. We identified an open chromatin region at chromosome 7q22.3 in megakaryocytes but not

SUBMITTER: Paul DS 

PROVIDER: S-EPMC3128100 | biostudies-literature | 2011 Jun

REPOSITORIES: biostudies-literature