Common functional genetic variants in catecholamine storage vesicle protein promoter motifs interact to trigger systemic hypertension.

ABSTRACT:

Objectives

The purpose of this study is to understand whether naturally occurring genetic variation in the promoter of chromogranin B (CHGB), a major constituent of catecholamine storage vesicles, is functional and confers risk for cardiovascular disease.

Background

CHGB plays a necessary (catalytic) role in catecholamine storage vesicle biogenesis. Previously, we found that genetic variation at CHGB influenced autonomic function, with association maximal toward the 5' region.

Methods

Here we explored transcriptional mechanisms of such effects, characterizing 2 common variants in the proximal promoter, A-296C and A-261T, using transfection/cotransfection, electrophoretic mobility shift assay (EMSA), and chromatin immunoprecipitation (ChIP). We then tested the effects

SUBMITTER: Zhang K 

PROVIDER: S-EPMC2889490 | biostudies-literature | 2010 Apr

REPOSITORIES: biostudies-literature