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目的研究胰升糖素样肽1受体(GLP1R)基因的单核苷酸多态性(SNP)与上海地区汉族人群2型糖尿病的相关性。方法选取上海地区无亲缘关系的2型糖尿病患者360例及正常对照313名,其中糖尿病患者分为肥胖组192例(BMI>28kg/m2,且仅用口服降糖药治疗)及非肥胖组168例(BMI<25kg/m2,且用胰岛素治疗),采用等位基因特异的实时PCR,对GLP1R基因位点rs2268657进行基因分型,并通过相关分析,研究该位点与2型糖尿病的相关性。结果GLP1R基因rs2268657位点AA、AG、GG基因型频率在对照人群中分别为0.086,0.447,0.446;在非肥胖糖尿病组中分别为0.155,0.375,0.470,在肥胖糖尿病组中分别为0.109,0.500,0.391。在正常人基因型AA频率与非肥胖糖尿病组相比差异有统计学意义(OR=1.939,P<0.05),而与肥胖糖尿病组相比差异无统计学意义。结论GLP1R基因多态性位点rs2268657可能与胰岛素分泌不足为主的2型糖尿病有关。
Objective To investigate the association between single nucleotide polymorphism (SNP) of glucagon-like peptide 1 receptor (GLP1R) gene and type 2 diabetes mellitus in Han population in Shanghai. Methods Three hundred and sixty unrelated type 2 diabetic patients in Shanghai and 313 normal controls were enrolled in this study. Diabetic patients were divided into two groups: 192 patients with obesity (BMI> 28kg / m2, only oral hypoglycemic agents) and 168 (BMI <25 kg / m2, and insulin treatment), using allele-specific real-time PCR, GLP1R gene locus rs2268657 genotyping and correlation analysis to study the relationship between the site and type 2 diabetes . Results The frequencies of AA, AG and GG genotypes of rs2268657 in GLP1R gene were 0.086, 0.447 and 0.446 in control subjects, 0.155, 0.357 and 0.470 respectively in non-obese diabetic subjects and 0.109 and 0.500 respectively in obese diabetic subjects , 0.391. There was a significant difference in AA genotype frequencies between normal subjects and non-obese diabetic subjects (OR = 1.939, P <0.05), but no significant difference compared with those in obese diabetic subjects. Conclusion GLP1R gene polymorphism rs2268657 may be related to insulin-deficient insulin-dependent type 2 diabetes.