PPARγ2基因Pro12Ala多态性与上海地区2型糖尿病的相关性  

Study of Pro12Ala polymorphism in peroxisome proliferator-activated receptor-72 gene with type 2 diabetes in Shanghai Han population

作　　者：董艳[1] 李果[1] 骆天红[1] 吴刚[1] 黄薇 罗敏[1] 

机构地区：[1]上海第二医科大学瑞金医院 [2]国家人类基因组南方研究中心

出　　处：《上海第二医科大学学报》2004年第5期345-347,375,共4页Acta Universitatis Medicinalis Secondae Shanghai

基　　金：国家重点基础研究规划项目("973"项目)(G1998051017)

摘　　要：目的 探讨过氧化物酶增殖体激活受体-γ2(PPARγ2)基因外显子2的Pro12Ala多态性与上海地区汉族人2型糖尿病及肥胖之间的关系。方法 应用聚合酶链式反应-直接测序技术,对178例2型糖尿病患者和183例正常对照者PPARγ2基因Pro12Ala多态性位点进行基因分型。结果 Pro12Ala多态性的基因型频率PP:PA:AA在2型糖尿病组和正常对照组中分别为92.7％:6.7％:0.6％和86.9％:12.6％:0.5％,P等位基因和A等位基因在2型糖尿病组和对照组的频率分布分别为96.1％、93.2％和3.9％、6.8％,两组间的基因型和等位基因频率均无显著性差异(P>0.05)。在正常人群中,Pro12Ala多态性的基因型和等位基因频率在体重指数<25kg/m2与>25kg/H2组间有显著性差异(P<0.05)。结论 PPARγ2基因Pro12Ala多态性可能与上海地区汉族人群肥胖的发生有一定相关性,但与2型糖尿病无明显关联。Objective To investigate the association of Pro12Ala polymorphism in peroxisome proliferator-activated receptor-γ2 (PPAR-γ2) gene with type 2 diabetes and obesity in Shanghai Han population. Methods Polymerase chain reaction( PCR)-direct sequencing assay was used to determine the distribution of allele and genotype frequencies of Pro12Ala polymorphism in PPAR-γ2 gene in 178 type 2 diabetic patients and 183 normal control subjects. Results The genotype frequencies ( PP : PA: AA) of the Prol2Ala variant in type 2 diabetes and control group were 92. 7% : 6. 7% : 0. 6% and 86. 9% : 12. 6% : 0. 5% . Frequencies of P allele and A allele were 96. 1% vs 93. 2% and 3.9% vs 6.8% in type 2 diabetes and control group. There were no differences in genotype and allele frequencies between these two groups (P > 0. 05) . But in the control group, the genotype and allele frequencies were significantly different between body mass index < 25 kg/m and > 25 kg/m groups(P < 0. 05). Conclusion Prol2Ala polymorphism in PPARγ2 gene is not significantly associated with type 2 diabetes, but it tends to increase the risk of obesity in Shanghai Hans.

关 键 词：PPARΓ2基因 Prol2Ala 基因多态性 上海 2型糖尿病 作用机制 胰岛素 

分 类 号：R587.1[医药卫生—内分泌]