Functional Characterization of the GUCY1A3 Coronary Artery Disease Risk Locus.

ABSTRACT:

Background

A chromosomal locus at 4q32.1 has been genome-wide significantly associated with coronary artery disease risk. The locus encompasses GUCY1A3, which encodes the α₁ subunit of the soluble guanylyl cyclase (sGC), a key enzyme in the nitric oxide/cGMP signaling pathway. The mechanism linking common variants in this region with coronary risk is not known.

Methods

Gene expression and protein expression were analyzed with quantitative polymerase chain reaction and immunoblotting, respectively. Putative allele-specific transcription factors were identified with in silico analyses and validated via allele-specific quantification of antibody-precipitated chromatin fractions. Regulatory properties of the lead risk variant region were analyzed with reporter

SUBMITTER: Kessler T 

PROVIDER: S-EPMC5560301 | biostudies-literature | 2017 Aug

REPOSITORIES: biostudies-literature