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 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.
Via
Marc
M
Unitat d'Antropologia, Departament de Biologia Animal, Universitat de Barcelona, Barcelona, Spain.
Valveny
Neus
N
Unitat d'Antropologia, Departament de Biologia Animal, Universitat de Barcelona, Barcelona, Spain.
López-Alomar
Antonio
A
Unitat d'Antropologia, Departament de Biologia Animal, Universitat de Barcelona, Barcelona, Spain.
Athanasiadis
Georgios
G
Unitat d'Antropologia, Departament de Biologia Animal, Universitat de Barcelona, Barcelona, Spain.
Pintó
Xavier
X
Unitat de Lípids i Arteriosclerosi, Hospital de Bellvitge, Spain.
Domingo
Enric
E
Unitat Coronària-Secció d'Hemodinàmica, Hospital Vall d'Hebron, Spain.
Esteban
Esther
E
Unitat d'Antropologia, Departament de Biologia Animal, Universitat de Barcelona, Barcelona, Spain.
González-Pérez
Emili
E
Unitat d'Antropologia, Departament de Biologia Animal, Universitat de Barcelona, Barcelona, Spain.
Moral
Pedro
P
Unitat d'Antropologia, Departament de Biologia Animal, Universitat de Barcelona, Barcelona, Spain. pmoral@ub.edu.
D017931:DNA Primers; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D040582:Inheritance Patterns / Q000235:genetics; D051038:Large-Conductance Calcium-Activated Potassium Channel beta Subunits / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D017202:Myocardial Ischemia / Q000235:genetics*; D013030:Spain
D017931:DNA Primers; D051038:Large-Conductance Calcium-Activated Potassium Channel beta Subunits