PPARγ2基因Pro12Ala多态性与2型糖尿病一级亲属的相关性

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。

Correlation between polymorphism of Pro12Ala of PPAR γ 2 and the first-order relatives of patients with type 2 diabetes mellitus

Objective To study the correlation between polymorphism of Pro12Ala of PPARγ2 and the first-order relatives of patients with type 2 diabetes mellitus(T2DM). Methods According to diagnosis and grading standard of WHO, the objectives were divided into three groups: The T2DM group, consisted of 79 people, whose number of sib relatives suffered T2DM ≥2; ② The NFDR group, first-order relatives of the T2DM group, with no T2DM or IGT, consisted of 84 people; ③ The NC group, no kinship with the T2DM group, with T2DM and IGT excluded by OGTT, consisted of 104 people. Each group was divided into two subgroups according to BMI: BMI≥25kg/m~2 group and BMI<25kg/m~2 group. The method of PCR-RFLP was applied to research into the polymorphism of Pro12Ala of PPARγ2 in the cellular test. The gene frequency and allelic gene frequency of each group were compared. Results There was no significant difference among the gene frequency or allelic gene frequency of the T2DM group, NFDR group, and the NC group(P>0.05); ② If each group was further divided into 2 subgroups with the index of BMI, there was no significant difference between the gene frequency and allelic gene frequency of the T2DM, NFDR subgroups (P>0.05); there was no significant difference between the gene frequency of the NC subgroups (P>0.05), but there was significant difference between the allelic gene frequency of the NC subgroups (P<0.05). Conclusion The polymorphism of Pro12Ala of PPARγ2 might not be related with the first-order relatives of patients with T2DM, but might be related with obesity in Chinese without family history of T2DM.