在内皮型一氧化氮合酶基因的启动子区域（T→C）存在等位基因多态性，而外显子7区域（G→T）或内含子4中的可变数目串联重复序列不存在这种多态性，该启动子区域的等位基因多态性与乌克兰人群的急性冠状动脉综合征呈正相关。

Allelic polymorphism in the promoter (T-->C), but not in exon 7 (G-->T) or the variable number tandem repeat in intron 4, of the endothelial nitric oxide synthase gene is positively associated with acute coronary syndrome in the Ukrainian population.

作者信息

Dosenko Victor E, Zagoriy Vyacheslav Yu, Lutay Yaroslav M, Parkhomenko Alexandr N, Moibenko Alexey A

机构信息

Department of Experimental Cardiology, Bogomoletz Institute of Physiology.

出版信息

Exp Clin Cardiol. 2006 Spring;11(1):11-3.

PMID:18651012

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2274837/

Abstract

BACKGROUND

Different allelic variants of endothelial nitric oxide synthase (eNOS) can have different effects on the development of certain forms of ischemic heart disease, depending on the specific human population. The frequency of the polymorphism T(-786) --> C in the promoter, G(894)-->T in exon 7 and the variable number tandem repeat in intron 4 were assayed in patients with acute coronary syndrome compared with clinically healthy individuals in the Ukrainian population.

METHODS

Polymerase chain reaction and restriction fragment length polymorphism analysis were used to detect the above mentioned variants of the eNOS gene in 221 patients with acute coronary syndrome and in 83 control subjects.

RESULTS

It was shown that the percentage of normal homozygotes, heterozygotes and pathological homozygotes for the T(-786)-->C promoter polymorphism was 47.5%, 36.2% and 16.3%, respectively (controls: 48.2%, 45.8% and 6.0%; P<0.05 by chi(2) test); for the G(894)-->T polymorphism in exon 7, the percentages were 34.4%, 57.9% and 7.7%, respectively (controls: 28.9%, 67.5% and 3.6%; P>0.05); and, for the 4a/4b polymorphism in intron 4, the percentages were 64.7%, 31.2% and 4.1%, respectively (controls: 62.7%, 32.5% and 4.8%; P>0.05).

CONCLUSIONS

The C/C promoter variant of eNOS can be considered a risk factor for acute coronary syndrome in the Ukrainian population.

摘要

背景

内皮型一氧化氮合酶（eNOS）的不同等位基因变体对某些形式缺血性心脏病的发展可能有不同影响，这取决于特定的人群。在乌克兰人群中，对急性冠状动脉综合征患者与临床健康个体进行了检测，分析了启动子中T（-786）→C多态性、第7外显子中G（894）→T多态性以及第4内含子中可变数目串联重复序列的频率。

方法

采用聚合酶链反应和限制性片段长度多态性分析，检测221例急性冠状动脉综合征患者和83例对照者eNOS基因的上述变体。

结果

结果显示，T（-786）→C启动子多态性的正常纯合子、杂合子和病理纯合子的百分比分别为47.5%、36.2%和16.3%（对照组：48.2%、45.8%和6.0%；经卡方检验，P<0.05）；第7外显子中G（894）→T多态性的百分比分别为34.4%、57.9%和7.7%（对照组：28.9%、67.5%和3.6%；P>0.05）；第4内含子中4a/4b多态性的百分比分别为64.7%、31.2%和4.1%（对照组：62.7%、32.5%和4.8%；P>0.05）。