内皮-氧化氮合酶基因多态性与糖尿病肾病关系的研究

The association of a polymorphism in endothelial nitric oxide synthase gene with diabetic nephropathy

目的 探讨内皮一氧化氮合酶(eNOS)基因内含子4的多态性与糖尿病肾病的关系,以及其在中国人、马来西亚人和印度人中的分布。方法 选择258例病程在10年以上的2型糖尿病患者作为观察对象,其中中国人150例、马来西亚人71例、印度人37例。从患者全血中提取DNA,然后,进行聚酶链反应(PCR)、克隆及测序。结果 以往认为该基因有2种等位基因(a和b),而本研究发现3种等位基因,并对第3种多态(等位基因c)基因进行了序列分析;统计分析显示,等位基因a、b和c均与糖尿病肾病无显著相关性。结论 eNOS基因内含子4上的多态性有3种等位基因;该基因多态性与糖尿病肾病无显著相关性。

Objective To examine the association of intron 4 polymorphism in endothelial nitric oxide synthase ( eNOS) gene with diabetic nephropathy and its distribution in different ethnic groups of Singapore. Methods 258 patients with diabetic duration longer than 10 years (150 Chinese, 71 Malay and 37 Indian) were selected from both inpatients and outpatients of National University Hospital. Polymorphism was identified by DNA extraction, PCR, Cloning and sequencing. Results All published studies identified that the 27bp repeat polymorphism in intron 4 was biallelic ( a and b alleles ). Our study found a third allele-allele c, with six 27bp repeats. It was also demonstrated that there was no significant difference in overall allele distribution among the three main ethnic groups and the intron 4 polymorphism didn't show any association with diabetic nephropathy. Conclusion The intron 4 polymorphism was triallelic. We failed to demonstrate any association between this polymorphism with diabetic nephropathy.