摘要
目的 了解线粒体DNA16 189T→C变异在 2型糖尿病 (DM)人群中的发生率和该基因变异与胰岛素抵抗的关系以及对糖尿病遗传易感性的影响。方法 利用聚合酶链反应结合限制性内切酶酶切分析 ,对 383例随机抽取的无亲缘关系的 2型DM患者及 15 1例无糖尿病的正常对照者进行筛查。结果 (1) 2型DM患者中mtDNA 16 189T→C变异的发生率显著高于正常对照组 (2 0 % ,P <0 0 0 0 1) ;(2 )母亲有糖尿病的 2型DM患者中mtDNA 16 189T→C变异的发生率高于无母系糖尿病家族史的患者 (2 7% ,P =0 0 12 ) ;(3)在 2型DM患者中 ,与mtDNA 16 189T→C变异阴性组相比 ,mtDNA16 189T→C变异阳性组的空腹胰岛素水平升高 (1 5 μU/L±2 5 μU/Lvs 1 2 μU/L± 1 2 μU/L ,经对数转化后为 0 2 4μU/L± 0 0 7μU/Lvs 0 2 μU/L± 0 0 7μU/L ,P =0 0 31) ,胰岛素敏感指数降低(- 4 5 8± 0 76vs - 4 42± 0 75 ,P =0 0 3)Homa胰岛素抵抗指数升高 (6 5 2± 10 6 9vs 5 0 3± 6 35 ,经对数转化后 :1 47± 0 76vs 1 30± 0 75 ,P =0 0 4)。 (4 )在正常对照组中 ,mtDNA 16 189T→C变异阳性组与阴性组的年龄、性别、体重指数、腰臀围比、血脂、空腹血糖、空腹胰岛素、胰岛素敏感指数 (ISI)
Objective To assess the prevalence of 16189 variant (T→C transition) of mitochondrial DNA in Chinese populations and to study the relation between mtDNA 16189 variant and insulin resistance and the role it plays in genetic predisposition to diabetes. Methods PCR and RELP techniques were used to examine 383 unrelated type 2 diabetics and 151 non diabetic controls selected by random sampling. Results (1) The prevalence of 16189 variant among type 2 diabetics was significantly higher than that among the controls. (2) The prevalence of 16189 variant was significantly higher among type 2 diabetics with maternal family history than among those without maternal family history. (3) In comparison with the type 2 diabetics without 16189 variant, those with 16189 variant showed higher fasting serum insulin level, decreased insulin sensitivity index, and higher Homa insulin resistance index. (4) In the control group, no significant difference in age, gender, body mass index, waist to hip ratio, serum lipid level, fasting plasma glucose level, fasting serum insulin level, insulin sensitivity index, and Homa insulin resistance index was found between those with 16189 variant and those without 16189 variant. Conclusion 16189 variant of mitochondrial DNA is one of the genetic predisposing factors for type 2 diabetes mellitus in Chinese populations. It might interfere with the energy metabolism and the production of ATP, thus causing insulin resistance in peripheral tissues.
出处
《中华医学杂志》
CAS
CSCD
北大核心
2001年第12期711-714,共4页
National Medical Journal of China
