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目的探讨PPARγ2基因Pro12Ala多态性与2型糖尿病(T2DM)一级亲属的相关性。方法将研究对象按WHO的诊断与分型标准分为:①T2DM组,79人,为T2DM患者且其家族中有血缘关系的T2DM患者≥2人;②正常糖耐量一级亲属(NFDR)组,84人,为T2DM的一级亲属中糖耐量正常者;③无家族史的正常糖耐量(NC)组,104人,为与T2DM无血缘关系,且经口服糖耐量试验排除T2DM和糖耐量异常者。每组按体重指数(BMI)再分为2个小组,即BMI≥25kg/m2小组和BMI<25kg/m2小组。应用聚合酶链反应—限制性内切酶片段长度多态性(PCR-RFLP)方法检测PPARγ2基因Pro12Ala多态性,比较各组基因型频率及等位基因频率。结果T2DM组、NFDR组、NC组基因型频率、等位基因频率之间无显著性差异(P>0.05)。T2DM组、NFDR组中BMI≥25kg/m2小组和BMI<25kg/m2小组基因型频率、等位基因频率之间亦无显著性差异(P>0.05);NC组中BMI≥25kg/m2小组和BMI<25kg/m2小组基因型频率无显著性差异(P>0.05),而等位基因频率有显著性差异(P<0.05)。结论PPARγ2基因Pro12Ala多态性与T2DM一级亲属无明显关联而与汉族无T2DM家族史的正常人群肥胖有关。
Objective To investigate the association between PPARγ2 gene Pro12Ala polymorphism and first-degree relatives of type 2 diabetes mellitus (T2DM). Methods According to the criteria of WHO diagnosis and classification, the patients were divided into two groups: ① T2DM group, 79 patients with T2DM and ≥2 patients with T2DM in their family; ② normal glucose tolerance first-degree relatives (NFDR) 84 were normal glucose tolerance in first degree relatives of T2DM; ③normal glucose tolerance (NC) group with no family history, 104 were unrelated to T2DM and were excluded from T2DM and glucose tolerance test by oral glucose tolerance test By. Each group was subdivided by body mass index (BMI) into two subgroups: the BMI ≥ 25 kg / m2 group and the BMI <25 kg / m2 subgroup. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used to detect the PPARγ2 gene Pro12Ala polymorphism. The genotype frequency and allele frequency of each group were compared. Results There was no significant difference in genotype frequency and allele frequency between T2DM group, NFDR group and NC group (P> 0.05). In T2DM group and NFDR group, there was no significant difference in genotype frequency or allele frequency between BMI≥25kg / m2 group and BMI <25kg / m2 group (P> 0.05). In NC group, BMI≥25kg / m2 group and BMI <25kg / m2 group genotype frequency no significant difference (P> 0.05), while the allele frequencies were significantly different (P <0.05). Conclusion There is no significant correlation between Pro12Ala polymorphism of PPARγ2 gene and first-degree relatives of T2DM, but related to obesity in normal population of Han without T2DM family history.