中国人内源性高甘油三酯血症患者胰岛素受体底物1基因的多态性

The Insulin Receptor Substrate-1 Gene Polymorphism in Patients with Endogenous Hypertriglyceridemia in Chinese Population

为探讨胰岛素受体底物 1基因多态性是否与内源性高甘油三酯血症患者有关联 ,应用多聚酶链反应对成都地区汉族 117例高甘油三酯血症患者及 194例正常对照者胰岛素受体底物 1基因酶切位点的限制性片段长度多态性进行研究。血脂用酶法测定 ,血清载脂蛋白AⅠ、AⅡ、B10 0、CⅡ、CⅢ及E用RID试剂盒测定。结果发现 ,高甘油三酯血症组和正常对照组胰岛素受体底物 1基因均以GG基因型为主 ,其频率分别为 0 .995和 0 .985 (P >0 .0 5 )。高甘油三酯血症组中具有GR基因型者血清载脂蛋白CⅢ水平较具有GG基因型者降低 (P >0 .0 5 )。以上结果提示胰岛素受体底物 1基因G972 R位点多态性与中国人高甘油三酯血症无关联。

Aim To investigate the insulin receptor substrate 1 (IRS 1) gene polymorphism and its relationship with serum lipids and apolipoproteins (Apo) levels in patients with endogenous hypertriglyceridemia (HTG) in Chinese population. Methods The genotype and allele frequency of IRS 1 gene polymorphism was assayed by polymerase chain reaction (PCR) restriction fragment length polymorphism (RFLP). Serum lipids were measured by enzymatic kits and apolipoproteins AⅠ, AⅡ, B100, CⅡ, CⅢ and E by RID kits developed by Apolipoprotein Research Unit of WCUMS in 117 HTG patients whose fasting serum TG levels were ≥2.26 mmol/L and 194 healthy subjects whose fasting serum TG levels were <1.82 mmol/L and TC levels <6.2 mmol/L from a population of Chinese Han nationality in Chengdu area. Results Both in HTG group and control group, the GG genotype of IRS 1 gene was the major one, and its frequency was 0.995 and 0.985 respectively. In the HTG group, subjects with the genotype GR had a lower serum ApoCⅢ levels than those with the genotype GG (P>0.05). Conclusion These results suggest that the IRS 1 gene G 972 R polymorphism was not associated with endogenous hypertriglyceridemia in Chinese population.