Chen Yuanxiu, Huang Hanxia, Zhou Jie, Doumatey Ayo, Lashley Kerrie, Chen Guanjie, Agyenim-Boateng Kofi, Eghan Benjamin A, Acheampong Joseph, Fasanmade Olufemi, Johnson Thomas, Akinsola Folasade B, Okafor Godfrey, Oli Johnnie, Ezepue Felix, Amoah Albert, Akafo Stephen, Adeyemo Adebowale, Rotimi Charles N
National Human Genome Center at Howard University, College of Medicine, Washington DC 20059, USA.
Mol Vis. 2007 Nov 26;13:2142-7.
In addition to chronic hyperglycemia, there is increasing evidence that genetic factors may be important in the development of diabetes retinopathy (DR). Specifically, polymorphisms of the endothelial nitric oxide synthase gene (eNOS) have been reported to be associated with multiple health conditions including DR, hypertension, nephropathy, and cardiovascular diseases in several ethnic groups. However, there is a paucity of similar data in African Americans and other African populations. To address this issue, we investigated the potential association between polymorphisms of the eNOS gene and diabetes-related phenotypes in 384 persons with type 2 diabetes and 191 controls from two West African countries (Ghana and Nigeria).
We genotyped the deletion/insertion (4a/b) and the G894T polymorphisms of eNOS gene in a total of 575 persons.
The b/b genotype of the polymorphism was associated with a 2.4 fold increased risk of DR (95% CI 1.39-4.09). In contrast, we did not observe any association between the genotypes or alleles of G894T polymorphism with DR, hypertension, or nephropathy.
We observed a significant association between the 4a/b polymorphism of the eNOS and DR in our West African cohort.
除慢性高血糖外，越来越多的证据表明遗传因素在糖尿病视网膜病变（DR）的发生发展中可能起重要作用。具体而言，据报道内皮型一氧化氮合酶基因（eNOS）的多态性与包括DR、高血压、肾病和心血管疾病在内的多种健康状况在多个种族中相关。然而，非裔美国人和其他非洲人群中缺乏类似数据。为解决这一问题，我们调查了来自两个西非国家（加纳和尼日利亚）的384例2型糖尿病患者和191例对照中eNOS基因多态性与糖尿病相关表型之间的潜在关联。
我们对总共575人进行了eNOS基因的缺失/插入（4a/b）和G894T多态性基因分型。
该多态性的b/b基因型与DR风险增加2.4倍相关（95%可信区间1.39 - 4.09）。相比之下，我们未观察到G894T多态性的基因型或等位基因与DR、高血压或肾病之间存在任何关联。
在我们的西非队列中，我们观察到eNOS的4a/b多态性与DR之间存在显著关联。
