【摘要】 为了探讨脂蛋白脂酶(lipoprotein lipase,LPL)基因HindⅢ酶切多态性与2型糖尿病(type 2 diabetes mellitus,T2DM)的关系,采用病例-同胞对照设计和随机病例-对照设计,应用PCR-RFLP方法,对264例T2DM患者和102名正常人LPL基因HindⅢ酶切多态性进行分析。结果表明,T2DM组H+等位基因及H+H+基因型的频率较对照组显著增高(H+:76.9%比69.1%,P<0.05;H+H+:59.8%比52%,P<0.05)。根据实验设计分组,同胞对T2DM组H+等位基因及H+H+基因型的频率较同胞对对照组显著增高(H+:81.5%比67.8%,P<0.05;H+H+:68.5%比50.7%,P<0.05),而随机病例组与对照组间无此频率差异性(P>0.05)。多因素Logistic回归显示T2DM的独立危险因素是空腹血糖和LPL基因型,H+H+纯合子患T2DM的危险性是H+H-和H-H-基因型的1.995倍(95%CI:1.036～3.840,P<0.05)。提示LPL基因HindⅢ多态性与湖北汉族人T2DM的危险性相关,其中H+等位基因可能是T2DM的遗传危险因素。更多还原

【Abstract】 We examined the association of a HindⅢ RFLP (restriction fragment length polymorphism) in the lipoprotein lipase (LPL) gene with type 2 diabetes (T2DM) in Chinese Han population in Hubei Province. Genotypes were determined by PCR-RFLP in 102 controls and 264 T2DM patients using sib-pair and unrelated case-control designs. The frequencies of the H+ allele and H+H+ genotype for patients were significantly higher than those for controls (H+: 76.9% vs 69.1%,P<0.05; H+H+: 59.8% vs 52%,P<0.05). When all subjects were grouped as designed,the H+ allele and H+H+ genotype for sib patients were significantly higher than those for sib controls (H+: 81.5% vs 67.8%,P<0.05; H+H+: 68.5% vs 50.7%,P<0.05),while there were no significant differences in controls and random patients (P>0.05). Logistic regression analysis suggested that risk factors for T2DM was fasting plasma glucose and LPL genotypes,with individuals with the H+H+ genotype doubling their risk for T2DM as compared to those with the H+H- and H-H- genotypes (95% CI: 1.036～3.840,P<0.05). These data suggest that the HindⅢ RFLP in the LPL gene is associated with T2DM risk in Chinese Han population in Hubei Province,and the H+allele may serve as a genetic risk factor of T2DM.更多还原