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目的:探讨线粒体DNA3537A/G、5351A/G位点突变与中国北方人群2型糖尿病发生之间的关系。方法:全部对象均来自大连市,2型糖尿病患者包括大连地区2型糖尿病家系调查收集的患者61例,大连市中心医院内分泌科收治的患者497例及国家“95”攻关“中老年糖尿病普查”大连地区散发患者56例。另选国家“95”攻关“中老年糖尿病普查”中糖耐量正常的344人作为正常对照。在614例2型糖尿病患者和334名非糖尿病对照群体中检测线粒体DNA3537A/G、5351A/G位点的突变情况。在测序基础上,从线粒体DNA中排序选择2个有较高可能性与2型糖尿病相关的候选SNP,然后使用限制性片断长度多态性聚合酶链反应技术进行基因分型。结果:线粒体DNA3537A/G、5351A/G在2型糖尿病患者中的突变频率分别为2.0%和2.6%,在对照人群中则分别为2.1%和4.2%,两者之间的差异无显著性意义(P>0.05)。按照体质量指数和血压进行分层之后,发现5351A/G在肥胖的2型糖尿病患者中突变频率为1.61%,在肥胖的对照中频率为15.38%,两者之间的差异具有显著性意义(PFisher=0.02,OR=2.76);但是A3537G在各组中的差异无显著性意义(P>0.05)。结论:线粒体DNAND2基因5351A/G可能与中国北方人群中2型糖尿病发病风险相关。
Objective: To investigate the relationship between mitochondrial DNA 3537A / G and 5351A / G mutation and type 2 diabetes in northern Chinese population. Methods: All subjects were from Dalian. Type 2 diabetes patients included 61 cases of type 2 diabetes pedigrees surveyed in Dalian, 497 cases of patients admitted to Department of Endocrinology of Dalian Central Hospital, Diabetes Census “distributed in 56 patients in Dalian. Another national ”95 “ research ”middle-aged diabetes screening " in normal glucose tolerance of 344 people as a normal control. Mitochondrial DNA 3537A / G and 5351A / G mutations were detected in 614 patients with type 2 diabetes mellitus and 334 non-diabetic controls. On the basis of sequencing, two candidate SNPs with a high probability of type 2 diabetes were selected from mitochondrial DNA and genotyped by restriction fragment length polymorphism (PCR). Results: The frequencies of mitochondrial DNA3537A / G and 5351A / G were2.0% and2.6% in patients with type2diabetes and2.1% and4.2% in control subjects, respectively, with no significant difference (P> 0.05). After stratified by body mass index and blood pressure, 5351A / G was found to have a mutation frequency of 1.61% in obese patients with type 2 diabetes mellitus and a frequency of 15.38% in obese controls, with a significant difference between the two PFisher = 0.02, OR = 2.76). However, the difference of A3537G in each group was not significant (P> 0.05). Conclusion: Mitochondrial DNAND2 gene 5351A / G may be associated with the risk of type 2 diabetes in northern Chinese population.