[目的]探讨延边地区朝鲜族和汉族过氧化物酶体增殖物激活受体γ2(PPAR-γ2)基因单核苷酸多态性(SNPs)与2型糖尿病(T2DM)的相关性.[方法]选择T2DM患者242人(朝鲜族93人,汉族149人)作为病例组,健康成人211人(朝鲜族103人,汉族108人)作为对照组进行病例对照研究.应用PCR-SSCP和直接序列测定方法对PPAR-γ2基因rs1801282和rs3856806位点基因型进行鉴定.[结果]病例组汉族(19.9%)PPAR-γ2基因rs3856806位点T等位基因频率显著高于朝鲜族(15.0%,P〈0.05),病例组和对照组PPAR-γ2基因rs1801282和rs3856806基因型及等位基因频率分布间差异无统计学意义(P〉0.05).病例组和对照组rs1801282位点多态性与临床表型间均无显著相关性(P〉0.05).病例组汉族rs3856806位点多态性与腰围、高密度脂蛋白胆固醇间有显著相关性(P〈0.05).单倍型Pro-T是T2DM的危险因素(P=0.048,OR=1.699,95%CI:1.000~2.888).[结论]rs1801282和rs3856806可能是延边地区朝鲜族T2DM的易感位点,两位点的Pro-T单倍型可能是T2DM的易感因素;rs1801282和rs3856806位点多态性存在民族差异.
AB OBJECTIVE To investigate the association between single nucleotide polymorphisms of peroxisome-proliferator-activated receptor γ2 (PPAR-72) gene and T2DM in the Korean and Hart nationality in Yanbian area. METHODS A total of 453 subjects were included in the study , with 242(149 Han and 93 Korean) patients of T2DM as case group and 211 (108 Han and 103 Korean) healthy persons as control group. The polymorphisms of PPAR-γ2 gene at rs1801282 and rs3856806 position were analyzed with polymerase chain reaction-single strand conformational polymorphism (PCR-SSCP) and DNA sequencing. RESULTS There were no differences in genotype frequencies and allele frequencies at rs1801282 and rs3856806 be- tween the case and control group (P〉0.05).T allele frequency was significantly higher in the T2DM of the Han nationality group (19.9%) than the Korean nationality group (15.0% ,P〈0.05), but no difference was found in the Korean and Han nationality of genotypic frequency (P〉 0.05). No correlation existed between clinical phenotypes and rs1801282 polymorphism in case and control group (P〉0.05). There were significant differences between rs3856806 polymorphism and waist and high density lipoprotein cholesterol in the Han nationality of case group (P〈 0.05). Haplotype Pro-T was susceptible factor for T2DM (P = 0. 048, OR = 1. 699, 95% CI : 1. 000 - 2. 888). CONCLUSION The rs1801282 and rs3856806 in PPAR-72 may be susceptible factors to T2DM in Korean nationality of Yanbian. The haplotype of Pro-T are associated with an increased risk of T2DM, and there are nationality different distribution of rs1801282 and rs3856806 .