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

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Abstract

Hypertension is a main risk factor for atherosclerosis through vascular wall hyperplasia. A recent study reported a new polymorphism (E65 K) in the β1 subunit (KCNMB1) gene of the Ca2+-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. © The Japan Society of Human Genetics and Springer-Verlag 2005.

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Via, M., Valveny, N., López-Alomar, A., Athanasiadis, G., Pintó, X., Domingo, E., … Moral, P. (2005). E65 K polymorphism in KCNMB1 gene is not associated with ischaemic heart disease in Spanish patients. Journal of Human Genetics, 50(11), 604–606. https://doi.org/10.1007/s10038-005-0298-9

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