The G894T mutation of the endothelial nitric oxide synthase gene is associated with coronary atherosclerotic heart disease in Chinese / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the association of the endothelial nitric oxide synthase (eNOS) gene polymorphism with coronary atherosclerotic heart disease (CHD) in Chinese Han nationality.</p><p><b>METHODS</b>For 106 patients with CHD and 108 unrelated health individuals, the G894T mutation at exon 7 of the endothelial nitric oxide synthase gene was studied by using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis.</p><p><b>RESULTS</b>(1) Among the normal subjects of Chinese Han nationality, the frequencies of the eNOS/GG, GT and TT genotypes were 0.9095, 0.0883 and 0.0021, respectively. The G and T allele frequencies were 0.9537 and 0.0463. (2) The authors assumed the effects of the T allele to be dominant (GT and TT combined vs GG). The GT+TT genotype frequencies in CHD and myocardial infarction (MI) subgroup were 0.2219 and 0.2387, respectively. The frequencies of eNOS/GT+TT genotypes in CHD patients, as well as MI subgroup were significantly higher than that of the normal subjects (P<0.05), respectively. The frequencies of T allele in CHD, MI subgroup were significantly higher than that in the normal subjects (P<0.01), respectively. (3) This mutation was not related to the number of affected vessels in the 58 patients who had angiographically documented artery narrowing (P>0.05).</p><p><b>CONCLUSION</b>The G894T mutation of the endothelial nitric oxide synthase gene may be a marker for genetical predisposition of CHD in Chinese Han population.</p>