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The catecholamine release-inhibitor catestatin and its precursor chromogranin A (CHGA) may constitute "intermediate phenotypes" in the analysis of genetic risk for cardiovascular disease such as hypertension. Previously, the vacuolar H(+)-ATPase subunit gene ATP6V0A1 was found within the confidence interval for linkage with catestatin secretion in a genome-wide study, and its 3'-UTR polymorphism T+3246C (rs938671) was associated with both catestatin processing from CHGA and population blood pressure. We explored the molecular mechanism of this effect by experiments with transfected chimeric photoproteins in chromaffin cells.

circulation. cardiovascular genetics

A Common Genetic Variant in the 3′-UTR of Vacuolar H <sup>+</sup> -ATPase <i>ATP6V0A1</i> Creates a Micro-RNA Motif to Alter Chromogranin A Processing and Hypertension Risk

A Common Genetic Variant in the 3′-UTR of Vacuolar H + -ATPase ATP6V0A1 Creates a Micro-RNA Motif to Alter Chromogranin A Processing and Hypertension Risk

A Common Genetic Variant in the 3′-UTR of Vacuolar H ⁺ -ATPase ATP6V0A1 Creates a Micro-RNA Motif to Alter Chromogranin A Processing and Hypertension Risk