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2型糖尿病白种人中内皮型一氧化氮合酶(eNOS)基因多态性与糖尿病视网膜病变的关系

Relationship of endothelial nitric oxide synthase (eNOS) gene polymorphisms with diabetic retinopathy in Caucasians with type 2 diabetes.

作者信息

Santos Kátia G, Crispim Daisy, Canani Luís H, Ferrugem Paula T, Gross Jorge L, Roisenberg Israel

机构信息

Research Center in Medical Sciences, Universidade Luterana do Brasil, Canoas, Brazil.

出版信息

Ophthalmic Genet. 2012 Mar;33(1):23-7. doi: 10.3109/13816810.2011.620057. Epub 2011 Oct 21.

Abstract

BACKGROUND

Nitric oxide synthesized by endothelial nitric oxide synthase (eNOS) plays a key role in the regulation of endothelial function, and controversial results regarding the association of eNOS gene polymorphisms with diabetic complications have been reported.

MATERIALS AND METHODS

In this case-control study, the relationship of the -786T/C, the VNTR intron 4 a/b and the 894G/T (Glu298Asp) polymorphisms in the eNOS gene with the presence or severity of diabetic retinopathy was analyzed in 630 Caucasian-Brazilians with type 2 diabetes (434 with and 196 without diabetic retinopathy). Genotyping of eNOS polymorphisms was carried out using the PCR or PCR-RFLP method, and haplotype frequencies were estimated using a Bayesian method.

RESULTS

Genotype and allele frequencies in patients with any degree of diabetic retinopathy or proliferative diabetic retinopathy were not significantly different from those of patients without this complication for all eNOS polymorphisms. Likewise, there were no differences in haplotype frequencies among diabetic patients with or without diabetic retinopathy (p values > 0.05 for all comparisons).

CONCLUSION

Our findings do not support the hypothesis that the -786T/C, the VNTR intron 4 a/b and the 894G/T (Glu298Asp) polymorphisms in the eNOS gene play a role in the pathogenesis of diabetic retinopathy in type 2 diabetes.

摘要

背景

内皮型一氧化氮合酶(eNOS)合成的一氧化氮在调节内皮功能中起关键作用,关于eNOS基因多态性与糖尿病并发症之间关联的研究结果存在争议。

材料与方法

在这项病例对照研究中,分析了630名患有2型糖尿病的巴西白种人(434例有糖尿病视网膜病变,196例无糖尿病视网膜病变)中eNOS基因的 -786T/C、第4内含子可变数目串联重复序列(VNTR)a/b以及894G/T(Glu298Asp)多态性与糖尿病视网膜病变的存在或严重程度之间的关系。使用聚合酶链反应(PCR)或PCR-限制性片段长度多态性(RFLP)方法进行eNOS基因多态性的基因分型,并使用贝叶斯方法估计单倍型频率。

结果

对于所有eNOS基因多态性,任何程度糖尿病视网膜病变或增殖性糖尿病视网膜病变患者的基因型和等位基因频率与无此并发症患者相比无显著差异。同样,有或无糖尿病视网膜病变的糖尿病患者之间单倍型频率也无差异(所有比较的p值>0.05)。

结论

我们的研究结果不支持以下假设,即eNOS基因的 -786T/C、第4内含子VNTR a/b以及894G/T(Glu298Asp)多态性在2型糖尿病性视网膜病变的发病机制中起作用。

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