PPARγ2基因Prol2Ala和C1431T多态性及其单倍型与2型糖尿病和肥胖的相关性研究  

Association of the Prol2Ala and C1431T polymorphism of the PPARγ2 gene and their hapiotypes with obesityand type 2 diabetes

作　　者：董春萍[1] 何岚[1] 李建宁[1] 叶枫[1] 贺明[1] 王毅[1] 

机构地区：[1]西安交通大学医学院第一附属医院,710061

出　　处：《中华医学遗传学杂志》2008年第4期447-451,共5页Chinese Journal of Medical Genetics

摘　　要：目的研究过氧化物体增殖活化受体γ2（peroxisome proliferator activated receptor72，PPAR72）基因Prol2Ala和C1431T多态性及其单倍型与汉族人2型糖尿病、肥胖的关系。方法应用聚合酶链反应-限制性片段长度多态性的方法，对207例2型糖尿病患者和101名非糖尿病对照者进行PPAR刀基因Prol2Ala和C1431T多态性研究。结果（1）在非糖尿病对照人群中Aall2等位基因频率是0．064，T1431等位基因频率是0．252。单倍型分析显示Prol2Ala和C1431T两个位点连锁不平衡（D’=0．63，r^2=0．074），组成了3种常见单倍型Pro-C、Pro-T和Ala—T。（2）Prol2Ala和C1431T多态性分布及其单倍型分布频率在2型糖尿病组与对照组组间差异均无统计学意义（P〉0．05）。（3）Prol2Ala变异与糖尿病患者的血压、血脂相关，Ala等位基因降低非肥胖糖尿病患者的舒张压（P〈0．05），而对肥胖糖尿病患者的血脂水平无保护作用（P〈0．05）；C1431T多态性与糖尿病患者的超重和肥胖相关，超重和肥胖的糖尿病者T等位基因频率相对较高（P〈0．05）。结论Prol2Ala和C1431T多态性可能在汉族人糖尿病发病中不是起主要作用；C1431T多态性与糖尿病患者的超重和肥胖相关。Objective To study the association of the Prol2Ala and C1431T polymorphism of the PPARγ2 gene and their haplotypes with obesity and type 2 diabetes in Chinese population. Methods PCR-restriction fragment length polymorphism was used to determine the Prol2Ala and C1431T polymorphisms in 207 patients with type 2 diabetes and 101 non-diabetic control subjects. Results （1） In non-diabetic control population, the Ala allele frequency was 0. 064, the T1431 allele frequency was 0.252. Haplotype analysis showed that the Prol2Ala and C1431T polymorphisms were in linkage disequilibrium （D＇ = 0.63, r^2 = 0. 074）, which constituted three major haplotypes Pro-C, Pro-T and Ala-T. （2） There were no significant differences of the distribution frequencies of the Prol2Ala and C1431T polymorphism and their haplotypes between the type 2 diabetes mellitus group and non-diabetic control group（P 〉 0.05）. （3） The Prol2Ala polymorphism was associated with blood pressure and lipidemia in diabetic patients. The Ala allele significandy decreased the diastolic blood pressure of non-obese diabetic patients （ P 〈 0.05 ）, but it did not benefit to the obese diabetic patients for the lipidemia （P 〈 0.05）. The C1431T polymorphism was associated with overweight and obesity in diabetic patients. The T1431 allele frequency in the body mass index ≥25 layer was significantly higher than that in the body mass index 〈 25 layer （ P 〈 0.05 ）. Conclusion The Prol2Ala and C1431T polymorphisms of the PPARγ2 gene might not be a major etiological factor for type 2 diabetes; the C1431T polymorphism was associated with overweight or obesity in diabetic patients.

关 键 词：过氧化物体增殖活化受体γ2基因 2型糖尿病 肥胖 单核苷酸多态性 单倍型 

分 类 号：R686[医药卫生—骨科学]