EACPT-0015 - Role for Germline Mutations and a Rare Coding Single Nucleotide Polymorphism Within KCNJ5 Potassium Channel in a Large Cohort of Sporadic Cases of Primary Aldosteronism.

Abstract

Primary aldosteronism (autonomous aldosterone production with suppressed renin) plays an important pathophysiological role in what has been previously labeled as essential hypertension. Besides the recently described germLine mutations in the KCNJ5 potassium channel associated with familial primary aldosteronism, somatic mutations in the same channel have been identified within aldosterone-producing adenomas. In this study, we have resequenced the flanking and coding region of KCNJ5 in peripheral blood DNA from 251 white subjects with primary aldosteronism to look for rare variants that might be important for the pathophysiology of sporadic primary aldosteronism.