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,采用病例一同胞对照设计和随机病例一对照设计,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。
We examined the association of a Hind m 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 Hind m RFLP in the LPL gene is associated with T2DM risk in Chinese Han popula-tion in Hubei Province, and the H+ allele may serve as a genetic risk factor of T2DM.