title: Lack of association between eNOS gene polymorphisms and ischemic heart disease in the Spanish population.
abstract: Through the nitric oxide (NO) production in the vascular system, the endothelial nitric oxide synthase (eNOS or NOS3) is a key enzyme in blood pressure regulation and atherosclerosis control. Several previous studies have suggested an important role of eNOS as a genetic risk factor for cardiovascular diseases. In this context, a genetic association study was carried out between two eNOS polymorphisms (the ecNOS4a/b VNTR and the G894T substitution) in a sample of 101 nuclear families having one affected offspring of ischemic heart disease (IHD). Transmission disequilibrium test (TDT) revealed partial associations between the VNTR marker and IHD in patients with a type A behavior pattern (TABP) (P = 0.0325, RR = 3.67) and for the haplotype formed by variant b of the VNTR and the T mutation of the G894T substitution in the IHD-affected subgroup having body mass index (BMI) lower than 25 (P = 0.0348, RR = 0.22). However, once multiple testing correction was applied, the associations became nonsignificant. A significant effect of the haplotype b-G increasing high-density lipoprotein cholesterol (HDL-C) plasma levels was detected (P = 0.021 after Bonferroni correction). From a population point of view, frequencies found for G894T substitution in Spain were significantly different from other populations.
authors.affiliation: Unitat d'Antropologia, Universitat de Barcelona, Barcelona, Spain.
authors.forename: Marc
authors.initials: M
authors.lastname: Via
authors.forename: Antonio
authors.initials: A
authors.lastname: López-Alomar
authors.forename: Neus
authors.initials: N
authors.lastname: Valveny
authors.forename: Emilio
authors.initials: E
authors.lastname: González-Pérez
authors.forename: Meritxell
authors.initials: M
authors.lastname: Bao
authors.forename: Esther
authors.initials: E
authors.lastname: Esteban
authors.forename: Xavier
authors.initials: X
authors.lastname: Pintó
authors.forename: Enric
authors.initials: E
authors.lastname: Domingo
authors.forename: Pedro
authors.initials: P
authors.lastname: Moral
mesh_terms: D000483:Alleles; D004247:DNA / Q000235:genetics; D005192:Family Health; D005260:Female; D005787:Gene Frequency; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D015810:Linkage Disequilibrium; D050356:Lipid Metabolism; D008297:Male; D017202:Myocardial Ischemia / Q000235:genetics* / Q000378:metabolism; D019001:Nitric Oxide Synthase / Q000235:genetics*; D052250:Nitric Oxide Synthase Type III; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D013030:Spain
chemical_list: D004247:DNA; C496314:NOS3 protein, human; D019001:Nitric Oxide Synthase; D052250:Nitric Oxide Synthase Type III