阻塞性睡眠呼吸暂停低通气综合征并发2型糖尿病患者线粒体DNA16189T→C变异情况调查

Mitochondrial DNA Variant 16189 T→C with Obstructive Sleep Apnea Hypopnea Syndrome（OSAHS）of Type 2 Diabetes Mellitus Patients

目的调查阻塞性睡眠呼吸暂停低通气综合征（OSAHS）并发2型糖尿病（T2DM）患者中线粒体DNA（mtDNA）16189T→C变异情况。方法采用聚合酶链反应结合限制性内切酶酶切（RELP-PCR）对134例OSAHS患者线粒体DNA（mtDNA）16189T→C变异进行分析，其中OSAHS并发T2DM患者52例，单纯OSAHS患者82例，同时以122例T2DM非OSAHS患者作为对照组，并以113例健康体检人群为空白组进行基因分布频率筛查。结果OSAHS并发T2DM组中mtDNA16189T→C突变的发生率（55．8％）显著高于单纯0SAHS组，差异具有统计学意义（29．2％，P〈0．001），与T2DM非OSAHS患者比较差异也有统计学意义（36．1％，P=0．016）；OSAHS并发T2DM组中，mtDNA16189T→C突变型胰岛素抵抗指数（IR）与野生型比较差异具有统计学意义（P=0．0001）。结论OSAHS并发T2DM患者存在较高的16189T→C突变，且此突变可能与IR相关。

Objective To investigate the mitochondrial DNA variant 16189 T→C in type 2 diabetes mellitus（T2DM） patients with obstructive sleep apnea hypopnea syndrome （OSAHS） population. Methods Polymerase chain reaction （PCR） and RFLPs were used to analyse the mitochondrial DNA variant 16189 T→C of 134 patients with OSAHS,which were di- vided into T2DM group （n=52）and non T2DM group（n：82）and 122 patients with T2DM no OSAHS were the control group,and 113 cases of healthy people were the blank group for the mitochondrial DNA variant 16189 T→C gene frequen- cies of screening. Results The prevalence of 16189 variant among OSAHS With T2DM group was significantly higher than that among the controls of OSAHS with non-T2DM group（55.8% vs 29.2% ,P〈0. 001）,and non-OSAHS patients with T2DM were also significant differences （36.1% ,P=0. 016）. Those with 16189 variant showed higher Homa insulin resis- tance index（HOMA-IR）than those without 16189 variant （P=0. 000 1）. Conclusion High mitochondrial DNA variant 16189 T→C may be associated with T2DM patients with OSAHS group.