Referenced in: none

Automatically associated channels: BKβ1

Title: E65 K polymorphism in KCNMB1 gene is not associated with ischaemic heart disease in Spanish patients.

Authors: Marc Via, Neus Valveny, Antonio López-Alomar, Georgios Athanasiadis, Xavier Pintó, Enric Domingo, Esther Esteban, Emili González-Pérez, Pedro Moral

Journal, date & volume: J. Hum. Genet., 2005 , 50, 604-6

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/16155733

Abstract
Hypertension is a main risk factor for atherosclerosis through vascular wall hyperplasia. A recent study reported a new polymorphism (E65 K) in the beta(1) subunit (KCNMB1) gene of the Ca(2+)-dependent potassium channel with a protective effect against the severity of diastolic hypertension, but further data have lead to conflicting results. In order to ascertain the involvement of the E65 K variant in cardiovascular system regulation, the potential association between this mutation and ischaemic heart disease was assessed through a family-based association study (n=302 individuals). Transmission disequilibrium analysis failed to detect any association between this polymorphism and ischaemic heart disease. Although a minor effect cannot be discarded, sample analytical power and negative results do not support a major role for E65 K polymorphism in atherogenic pathologies.