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J Hum Genet. 2005;50(11):604-6. Epub 2005 Sep 10.

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

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  • 1Unitat d'Antropologia, Departament de Biologia Animal, Universitat de Barcelona, Barcelona, Spain.


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.

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