2型糖尿病合并高甘油三酯血症患者载脂蛋白CⅢ基因多态性研究

Apolipoprotein CⅢ gene polymorphism in patients of type 2 diabetes mellitus with hypertriglyceridemia

目的 探讨载脂蛋白CⅢ (apoCⅢ )基因SstⅠ酶切位点多态性与 2型糖尿病合并高甘油三酯血症 (HTG)的关系。方法 应用聚合酶链反应 限制性片段长度多态性 (PCR RFLP)检测 143例 2型糖尿病患者及 12 7例非糖尿病对照者的SstⅠ位点多态性。结果 apoCⅢSstI位点在两组中均以S1等位基因为主。S2 频率在 2型糖尿病组稍高于对照组 (0 .336vs 0 .2 76 ,P >0 .0 5 )。两组中合并高甘油三酯血症 (HTG)者S2 S2 基因型及S2 等位基因频率均高于正常血脂 (NTG)者 (均P <0 .0 5 )。两组中具S2 S2 基因型者apoCⅡ、CⅢ水平较S1S1基因型者明显升高 (P <0 .0 5 ) ,体重指数(BMI)、腰臀比 (WHR)、甘油三酯 (TG)、总胆固醇 (TC)、载脂蛋白B(apoB)、载脂蛋白E(apoE)水平较S1S1和S1S2 基因型者有增高趋势 ,HDL C和胰岛素敏感指数 (ISI)有下降趋势 (P >0 .0 5 )。结论ApoCⅢSstⅠ位点S2 等位基因可能是造成 2型糖尿病人群发生HTG的遗传因素之一。

Objective To investigate the frequency of variant SstⅠ site of apolipoprotein (apo) CⅢ gene and its relationship to type 2 diabetes mellitus with hypertriglyceridemia (HTG). Methods The restriction fragment length polymorphism (RFLP) at SstⅠ site of apo CⅢ gene was studied in 127 non diabetic controls and 143 type 2 diabetic patients from a population of Chinese. Results In both groups S 1 allele (SstⅠ)was the major allele. The frequency of S 2 allele in type 2 diabetic group was slightly higher than that in control group (0.336 vs 0.276, P>0.05). Homozygous S 1S 1 genotype was the most frequent one in controls, while in type 2 diabetes, the S 1S 2 was. In type 2 diabetic group, the frequancies of S 2 allele and S 2S 2 genotype in patients associated with HTG were all significantly higher than those with normal triglyceridemia (NTG) levels (P<0.05). In control group, the frequencies of S 2 allele and S 2S 2 genotype were also increased significantly in HTG subjects as compared with NTG subjects (P<0.05,P<0.05). Compared with subjects of genotype S 1S 1, the subjects with genotype S 2S 2 had significantly higher levels of apoCⅡ、 CⅢ (P<0.05) and relatively higher levels of body mass index, waist hip ratio, triglyceride, total cholesterol, apo B, apo E and lower levels of high density lipoprotein cholesterol, insulin sesitivity index, apoAⅠand apoAⅡ(P>0.05). Conclusion S 2 allele may comtribute to the genetic predisposition to type 2 diabetes with HTG.