线粒体DNA 12026A/G多态性与2型糖尿病的相关性研究以及Meta分析  

The correlative research between mtDNA 12026A/G polymorphism in ND4 gene and T2DM risk: a casecontrol study and meta-analysis

作　　者：张宇宁[1] 杨训俊 沈飞霞[2] 吕建新[1] 

机构地区：[1]温州医科大学检验医学院生命科学学院浙江省医学遗传学重点实验室Attardi线粒体生物医学研究院,浙江温州325035 [2]温州医科大学附属第一医院内分泌科,浙江温州325015

出　　处：《温州医科大学学报》2015年第10期713-717,722,共6页Journal of Wenzhou Medical University

基　　金：国家自然科学基金资助项目(81071426);浙江省自然科学基金重大专项(D2080910)

摘　　要：目的：探讨线粒体DNA NADH脱氢酶4亚基（ND4）基因12026 A/G多态性与2型糖尿病（T2DM）的相关性。方法：通过对温州医科大学附属第一医院就诊的551例T2DM患者和757例对照者的线粒体DNA（mt DNA）进行PCR扩增以及Sanger测序,统计分析ND4基因12026 A/G多态性与疾病的关系。采用logistic回归分析计算患病风险比（OR）和95%可信区间（CI）。同时通过搜索Pubmed、Embase、中国知网以及万方数据库,汇总已发表研究12026 A/G多态性与T2DM关系的文献,提取数据,并利用Revman 4.2和STATA 10.0软件对数据进行Meta分析。结果：551例中国浙江籍T2DM患者中mt DNA 12026G基因型占4.49%,757例非T2DM对照中mt DNA 12026G基因型占4.75%,两组间差异无统计学意义（OR=0.94,95%CI：0.57～1.57;P=0.82）。然而汇总相关文献的Meta分析结果显示,Mt DNA 12026 A/G多态性与T2DM的发生存在相关性（OR=1.95;95%CI：1.14～3.33,P=0.01）。结论：mt DNA ND4基因12026G基因型是中国人群T2DM的风险因素,与T2DM的发生发展有关,但其在不同人群中存在差异。Objective： To investigate the role of mitochondrial DNA 12026A/G（Mt12026） polymorphism in NADH-dehydrogenase subunit 4（ND4） gene in T2DM. Methods： In order to detect 12026A/G polymorphism in ND4 gene, we used PCR and Sanger sequencing among 551 diabetic patients and 757 controls who were enrolled from the First Affiliated Hospital of Wenzhou Medical University. Logistic regression analysis was used to estimate odds ratios（OR） and 95% confidence intervals（CI）. We searched through electronic database Pub Med, Embase, China National Knowledge Infrastructure（CNKI） and Wanfang, a meta-analysis was employed based on the publications which described the association of the Mt12026A/G polymorphism with T2DM to evaluate the association between T2DM susceptibility and mitochondrial polymorphism in 12026A/G. Results： In our research, the genotype of mitochondrial DNA 12026 G in 551 diabetic patients was 4.49% and 12026 G genotype in 757 controls was 4.75%, no significant association between diabetic patients and the controls for 12026A/G polymorphism（OR=0.94, 95%CI 0.57～1.57, P=0.82） in Zhejiang province was found. But meta-analysis suggested that m.12026A/G polymorphism was associated with increased risk of T2DM（OR=1.95; 95%CI 1.14～3.33, P=0.01）. Conclusion： The Mt12026A/G polymorphism is associated with an increased risk of T2DM in Chinese Han population, but differences are existed among different populations.

关 键 词：糖尿病 2型 线粒体DNA多态性 ND4 META分析 

分 类 号：R446.1[医药卫生—诊断学]