A Functional Variant Associated with Atrial Fibrillation Regulates PITX2c Expression through TFAP2a.

ABSTRACT: The most significantly associated genetic locus for atrial fibrillation (AF) is in chromosomal region 4q25, where four independent association signals have been identified. Although model-system studies suggest that altered PITX2c expression might underlie the association, the link between specific variants and the direction of effect on gene expression remains unknown for all four signals. In the present study, we analyzed the AF-associated region most proximal to PITX2 at 4q25. First, we identified candidate regulatory variants that might confer AF risk through a combination of mammalian conservation, DNase hypersensitivity, and histone modification from ENCODE and the Roadmap Epigenomics Project, as well as through in vivo analysis of enhancer activity in embryonic zebrafish. Within can

SUBMITTER: Ye J 

PROVIDER: S-EPMC5142106 | biostudies-literature | 2016 Dec

REPOSITORIES: biostudies-literature