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内皮细胞固有型一氧化氮合酶基因G894T(Glu298Asp)变异与2型糖尿病微血管并发症的相关性 被引量:5

The relationship between the G894T mutation of the endothelial-constitutive nitric oxide synthase(ecNOS) and type 2 diabetic microangiopathies
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摘要 目的观察内皮细胞固有型一氧化氮合酶(ecNOS)基因外显子7的Glu298Asp多态性与2型糖尿病(T2DM)微血管并发症的关系。方法利用PCR-RFLP技术检测299例T2DM患者和100例正常对照(NC)者,比较各组间的等位基因频率与基因型频率。结果(1)糖尿病肾病(DN)组的GT基因型和T等位基因频率明显高于非DN组和NC组(P均<0.05);(2)DM患者GT基因型较GG基因型的DN患病率显著升高(P<0.05)。(3)该基因多态性是DN的独立危险因素。(4)糖尿病足(DF)组、非DF组和NC组间基因型分布无显著差异;糖尿病视网膜病变(DR)组、非DR组和NC组间基因型分布无显著差异(P>0.05)。结论ecNOS基因外显子7的基因G894T(Glu298Asp)的变异可能是T2DM患者DN的相关基因;DF、DR的病理过程可能有别于DN。  Objective To examine the contribution of the Glu298Asp substitution in extron 7 of the endothelial-constitutive nitric oxide synthase(ecNOS) gene to the development of diabetic microangiopathic complication.Methods In 299 cases with type 2 diabetes(n=167 with DN,n=132 with non-DN) and 100 healthy control(NC) subjects,the G894T mutation was studied by using polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) analysis.Results(1)In comparison between DN versus non-DN and NC,DN group showed the significantly increased GT genotype(25.1% vs 12.9 and 14%) and T allele(12.6% vs 6.4% and 7%)(all P〈0.05).(2) Development of diabetic nephropathy was positively associated with the presence of the T allele of the ecNOS gene(with/without nephropathy is 42/17 in patients with GT genotype and 125/115 in patients with GG genotype;P=0.008).(3) G894T mutation is independent risk factors for diabetic nephropathy(OR=3.175,P〈0.05).(4)There was no differences in the distribution of the Glu298Asp polymorphism between patients with and without diabetic foot and control group.Similarly,There was no differences between patients with and without diabetic retinopathy and control group(P〉0.05).Conclusions(1)The G894T mutation at exon 7 of the ecNOS gene may be a marker for genetical predisposition of type 2 diabetic nephropathy in Tianjin city.(2)Type 2 diabetic nephropathy,diabetic retinopathy,diabetic foot may evolve as distinctly pathological processes influenced in different ways.
出处 《中国糖尿病杂志》 CAS CSCD 北大核心 2007年第8期471-473,共3页 Chinese Journal of Diabetes
关键词 糖尿病 2型 一氧化氮合酶 多态性 微血管病变 Diatetes mellitus,type 2 Nitric oxide synthase Polymorphism Microangiopathy
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参考文献6

  • 1Shin Y,Baek SH,Chang KY,et al.Relations between eNOS Glu298Asp polymorphism and progression of diabetic nephropathy.Diabetes Res Clin Pract,2004,65:257-265.
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  • 4Antoniades C,Tousoulis D,Vasliadou C,et al.Genetic polymorphisms G894T on the eNOS gene is associated with endothelial function and vWF levels in premature myocardial infarction survivors.Int J Cardiol,2006,107:95-100.
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二级参考文献16

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