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目的探讨脂蛋白脂酶(LPL)基因Hind Ⅲ和Pvu Ⅱ酶切多态性与新疆维吾尔自治区汉族人群异常体液型2型糖尿病(T2DM)的关系。方法按维吾尔医学将T2DM患者分为4种体液型,应用PCR-RFLP技术分析87例T2DM患者和157例正常人LPL基因Hind Ⅲ和Pvu Ⅱ酶切位点的基因型。结果异常黏液质型和异常黑胆质型T2DM组H-等位基因、H+H-基因型和P-P-基因型的频率较对照组显著增高(H-:37.5%比18.5%,39.7%比18.5%,P<0.05;H+H-:55.0%比29.3%,58.6%比29.3%,P<0.05;P-P-:35.0%比10.8%,27.6%比10.8%,P<0.05)。在异常黏液质型和异常黑胆质型T2DM组中携带突变〔(H+H-)+(H+H)〕基因型的个体较携带H-H-基因型的个体患T2DM的危险性增加(OR=2.793,95%CI为0.525～14.925;OR=2.907,95%CI为0.683～12.345),在这两组中携带突变〔(P+P-)+(P+P+)〕基因型的个体较携带P-P-基因型的个体患T2DM的危险性增加(OR=4.425,95%CI为1.555～12.658;OR=3.134,95%CI为1.205～8.197)。结论 LPL基因Hind Ⅲ和Pvu Ⅱ多态性与新疆汉族人异常黏液质型和异常黑胆质型T2DM的危险性相关,与新疆汉族人异常胆液质型和异常血液质型T2DM的危险性无关。
Objective To investigate the relationship between Hind Ⅲ and Pvu Ⅱ polymorphisms of lipoprotein lipase (LPL) gene and abnormal body fluid type 2 diabetes mellitus (T2DM) in Han nationality in Xinjiang Uygur Autonomous Region. Methods According to the Uyghur medicine, T2DM patients were divided into four body fluid types. The genotypes of Hind Ⅲ and Pvu Ⅱ cleavage sites of LPL gene in 87 T2DM patients and 157 healthy controls were analyzed by PCR-RFLP. Results The frequencies of H-allele, H + H-genotype and PP-genotype in patients with abnormal mucinous and abnormal savda type T2DM were significantly higher than those in control group (H-: 37.5% vs. 18.5%, 39.7% 18.5%, P <0.05; H + H-: 55.0% vs. 29.3%, 58.6% vs. 29.3%, P <0.05; PP-: 35.0% vs. 10.8%, 27.6% vs. 10.8%, P <0.05). Individuals with the mutant [(H + H -) + (H + H)] genotype in individuals with abnormal mucinous and abnormal savda type T2DM had a greater risk of developing T2DM than those with HH- genotypes (OR = 2.793, 95% CI 0.525 ~ 14.925; OR = 2.907, 95% CI 0.683 ~ 12.345). The individuals carrying the mutant (P + P +) Individuals with PP-genotype had an increased risk of T2DM (OR = 4.425, 95% CI 1.555-12.658; OR 3.134, 95% CI 1.205- 8.197). Conclusion The polymorphisms of Hind Ⅲ and Pvu Ⅱ in LPL gene are associated with the risk of abnormal mucinous type and abnormal savda type T2DM in Han nationality in Xinjiang Uygur Autonomous Region, but not with the risk of abnormal bile and type T2DM in Han nationality of Xinjiang .