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.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2008年第4期447-451,共5页
Chinese Journal of Medical Genetics