线粒体DNA5178位点C／A多态性对于2型糖尿病发生和发展的影响被引量：5

Effect of mitochondrial DNA 5178 C/A polymorphism on risks for type 2 diabetes mellitus and its complications

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摘要目的探讨线粒体DNANADH脱氢酶2亚基（NADH dehydrogenase subunit2，ND2）基因5178位点的C／A多态性与中国汉族人群2型糖尿病（type 2 diabetes mellitus，T2DM）的相关性。方法收集1103例T2DM患者和791名正常对照的血液样本，通过聚合酶链反应结合测序的方法确定Mt5178C／A的多态性。采用Logistics回归分析计算患病风险比（oddsratio，OR）和95％可信区间（95％ confidenceinterval，95％CI）。汇总研究Mt5178突变与T2DM相关性的文献，提取数据，进行荟萃分析。结果病例对照研究未发现Mt5178多态性与T2DM发生的相关性。Meta分析共纳入8篇已发表的研究，分析结果同样未发现Mt5178多态性与T2DM发生的相关性。但结果提示T2DM患者携带5178C基因型合并肾病并发症的风险更高（OR=1．49，95％CI：1．005-2．197，P〈0．05），而该基因型的患者并发高血压的风险则有所降低（OR=0．744，95％CI：0．556～0．996，P〈0．05）。结论线粒体ND2基因Mt5178c／A多态性与T2DM发生无关，但可能与T2DM的并发症如肾病和高血压的发展相关。 Objective To explore the role of mitochondrial DNA 5178 C/A （Mt5178） polymorphism of NADH-dehydrogenase subunit 2 （ND2） gene in type-2 diabetes mellitus （T2DM） among ethnic Han Chinese through a case-control study. Methods The Mt5178C/A polymorphism was determined by sequencing 1103 T2DM patients and 791 healthy controls. Logistic regression analysis was conducted to estimate odds ratios （OR） and 95% confidence intervals （CI）. To confirm the results, a recta-analysis was conducted based on published literature on the association of Mt5178 variant with T2DM. Results No significant association was found between the MtS178C/A variant and T2DM either by our study or the meta-analysis which included eight published studies. Nevertheless, it was found that the T2DM patients with 5178C genotype were at a higher risk for nephropathy complication （OR = 1.49, 95 % C1： 1. 005-2. 197, P〈0.05） and at significantly lower risk for hypertension complication （OR=0. 744, 95 %CI： 0. 556-0. 996, P〈0.05） compared with those carrying a 5178A genotype. Conclusion No association was found between the MtS178C/A polymorphism of mitochondrial ND2 gene with the increased risk of T2DM. However, the polymorphism may affect the development of nepbropathy and hypertension complications among T2DM patients.

作者杨训俊张宇宁马胤赵琼雅吕建新

机构地区温州医科大学浙江省遗传学重点实验室

出处《中华医学遗传学杂志》 CAS CSCD 北大核心 2015年第6期855-860,共6页 Chinese Journal of Medical Genetics

基金浙江省自然科学基金（D2080910）

关键词荟萃分析线粒体ND2基因多态性 2型糖尿病并发症 Meta-analysis Mitochondrial ND2 gene Polymorphism Type 2 diabetes Complication

分类号 R587.1 [医药卫生—内分泌]

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参考文献34

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