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

Hypertension is a main risk factor for atherosclerosis through vascular wall hyperplasia. A recent study reported a new polymorphism (E65 K) in the β 1 subunit (KCNMB1) gene of the Ca 2+ -dependent potassium channel with a protective effect against the severity of diastolic hypertension, but further...

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Veröffentlicht in:Journal of human genetics 2005-11, Vol.50 (11), p.604-606
Hauptverfasser: Via, Marc, Valveny, Neus, López-Alomar, Antonio, Athanasiadis, Georgios, Pintó, Xavier, Domingo, Enric, Esteban, Esther, González-Pérez, Emili, Moral, Pedro
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container_end_page 606
container_issue 11
container_start_page 604
container_title Journal of human genetics
container_volume 50
creator Via, Marc
Valveny, Neus
López-Alomar, Antonio
Athanasiadis, Georgios
Pintó, Xavier
Domingo, Enric
Esteban, Esther
González-Pérez, Emili
Moral, Pedro
description Hypertension is a main risk factor for atherosclerosis through vascular wall hyperplasia. A recent study reported a new polymorphism (E65 K) in the β 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.
doi_str_mv 10.1007/s10038-005-0298-9
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A recent study reported a new polymorphism (E65 K) in the β 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. 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source MEDLINE; Springer Nature - Complete Springer Journals; EZB-FREE-00999 freely available EZB journals
subjects Arteriosclerosis
Biomedicine
Calcium
Cardiovascular disease
Cardiovascular system
Coronary artery disease
DNA Primers
Gene Expression
Gene Frequency
Gene Function
Gene polymorphism
Gene Therapy
Genetic Predisposition to Disease - genetics
Health risk assessment
Heart diseases
Human Genetics
Humans
Hyperplasia
Hypertension
Inheritance Patterns - genetics
Large-Conductance Calcium-Activated Potassium Channel beta Subunits - genetics
Molecular Medicine
Mutation, Missense - genetics
Myocardial Ischemia - genetics
Polymorphism
Risk factors
Short Communication
Spain
title E65 K polymorphism in KCNMB1 gene is not associated with ischaemic heart disease in Spanish patients
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