Lack of association between eNOS gene polymorphisms and ischemic heart disease in the Spanish population.
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.
Via
Marc
M
Unitat d'Antropologia, Universitat de Barcelona, Barcelona, Spain.
López-Alomar
Antonio
A
Valveny
Neus
N
González-Pérez
Emilio
E
Bao
Meritxell
M
Esteban
Esther
E
Pintó
Xavier
X
Domingo
Enric
E
Moral
Pedro
P
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
D004247:DNA; C496314:NOS3 protein, human; D019001:Nitric Oxide Synthase; D052250:Nitric Oxide Synthase Type III