PPARγ基因外显子区多态性与江苏省汉族人群2型糖尿病遗传易感性  

Association between genetic polymorphisms in exon 2 and 6 of the PPAR-γ gene and susceptibility to T2DM in Han population of Jiangsu

作　　者：曹园园[1] 马建华[2] 李倩[2] 叶新华[3] 俞晓芳[4] 高燕勤[4] 陆莹[1] 杜文聪[1] 成金罗[3] 周玲[1] 

机构地区：[1]南京医科大学公共卫生学院流行病与卫生统计学系,南京210029 [2]南京医科大学附属南京市第一医院内分泌科 [3]南京医科大学附属常州第二人民医院内分泌科 [4]南京医科大学第三附属医院内分泌科

出　　处：《中国糖尿病杂志》2010年第4期259-263,共5页Chinese Journal of Diabetes

基　　金：国家自然科学基金(30771858);江苏省自然科学基金(BK2007229)

摘　　要：目的探讨江苏省汉族人群PPARγ基因外显子区两个单核甘酸多态性(rs1801282,rs3856806)与2型糖尿病(T2DM)的关系。方法采用病例对照研究选取新发T2DM 296例,年龄、性别频数匹配的健康对照477名,用PCR-RFLP方法进行两位点多态性检测。结果 PPARγ基因rs3856806位点多态性在病例组与对照组的分布差异有统计学意义(P<0.05)。与携带CC型相比较,携带CT/TT型者患T2DM风险降低。分层分析发现在女性、>50岁、高血压或体重正常群体中,携带CT/TT型者较CC型者患T2DM风险降低[OR值分别为0.33(95%CI:0.14,0.76),0.45(95%CI:0.23,0.88)、0.59(95%CI:0.36,0.95),0.34(95%CI:0.13,0.94)]。rs1801282位点多态性在病例组和对照组中的分布差异无统计学意义(P>0.05),但分层分析发现,携带CG(Pro/Ala)型肥胖者较CC型者患T2DM发病风险降低[OR(95%CI)=0.30(0.09,0.90)]。结论 PPARγ基因多态性改变可能与江苏汉族人群T2DM遗传易感性有关。Objective To explore the relationship between two functional polymorphisms in exons of the PPARγ gene and the susceptibility to T2DM. Methods PCR-RFLP was performed to test the genotypes in 296 newly-diagnosed T2DM cases and 477 controls matched for age and sex. Results The rs3856806 polymorphism of PPAR7 gene showed a significant difference between T2DM cases and controls. Compared with CC genotype, those carrying CT/TT genotype had a lower T2DM risk. In the stratified analysis, compared with CC genotype, those carrying CT/TT genotype had a significantly reduced risk in female, the elders （aged above 50 years）, hypertensive subjects and normal weight individuals with OR value of 0.33（95%CI： 0.14, 0.76）, 0.45（95%CI： 0.23, 0.88）, 0.59（95%C1： 0.36, 0.95） and 0. 34 （95% CI： O. 13, 0. 94）, respectively. There was no significant difference in genotype frequency of rs1801282 polymorphism between T2DM patients and controls. However, the obese individuals carrying CG（Pro/Ala） genotypes had a lower T2DM risk. Conclusions The polymorphisms of PPARγ gene might play a role in the susceptibility of T2DM in Han population of Jiangsu.

关 键 词：PPARΓ基因 糖尿病 2型 单核苷酸多态性 病例对照研究 

分 类 号：R587.1[医药卫生—内分泌]