Association of endothelial nitric oxide synthase Glu298Asp, 4b/a, and-786T>C gene variants with diabetic nephropathy
Association of endothelial nitric oxide synthase Glu298Asp, 4b/a, and-786T>C gene variants with diabetic nephropathy
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DOI：
10.1016/j.jdiacomp.2007.11.011
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发表时间：
2008-09-01
影响因子：
3
通讯作者：
Almawi, Wassim Y.
中科院分区：
文献类型：
--
作者：
Ezzidi, Intissar;Mtiraoui, Nabil;Almawi, Wassim Y.
背景资料：内皮型一氧化氮合酶（eNOS）产生的一氧化氮（NO）介导多种过程，异常的NO产生介导糖尿病并发症，包括糖尿病肾病（DN）。鉴于eNOS基因多态性对eNOS活性的影响，eNOS基因多态性被描述为动脉粥样硬化和DN的候选者。目的：采用单倍型分析方法，探讨eNOS基因启动子区-786T>C、外显子7 Glu 298 Asp和内含子4 4 b4 a多态性与2型糖尿病（T2 DM）和糖尿病肾病（DN）的关系。研究对象和方法：研究受试者包括515例DN患者、402例正常白蛋白尿[糖尿病无肾病（DWN）] T2 DM患者和748例健康受试者。采用PCR-RFLP方法进行-786T>C和Glu 298 Asp基因分型。结果如下：与健康受试者相比，T2 DM患者中突变型Asp 298、4a和-786C等位基因以及纯合子Asp 298/Asp 298和4a/4a基因型的患病率更高，与DWN患者相比，ON患者中Asp 298/Asp 298的患病率更高（P
Background: Nitric oxide (NO) produced by endothelial NO synthase (eNOS) mediates a wide range of processes, and abnormal NO production mediated diabetes complications, including diabetic nephropathy (DN). In view of their impact on eNOS activity, polymorphisms in eNOS gene were described as candidates for atherosclerosis and DN. Aims: We evaluated the association of -786T>C (promoter region), Glu298Asp (Exon 7), and 4b4a (Intron 4) polymorphisms in eNOS gene with Type 2 diabetes mellitus (T2DM) and DN by haplotype analysis. Subjects and Methods: Study subjects comprised 515 DN patients, 402 normoalbuminuric [diabetes with no nephropathy (DWN)] T2DM patients, and 748 healthy subjects. -786T>C and Glu298Asp genotyping were done by PCR-RFLP analysis. Results: Higher prevalence of mutant Asp298, 4a, and -786C alleles and homozygous Asp298/Asp298 and 4a/4a genotypes were seen in T2DM patients compared to healthy subjects, with increased Asp298/Asp298 seen in ON compared to DWN patients (P