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[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.
[Objective] To explore the relationship between peroxisome proliferator-activated receptor gamma 2 (PPAR-γ2) single nucleotide polymorphisms (SNPs) and type 2 diabetes mellitus (T2DM) in Yanbian area. ] A total of 242 T2DM patients (93 Korean and 149 Han nationality) were selected as case-control group and 211 healthy adults (103 Korean and 108 Han nationality) as control group.The PCR-SSCP and direct sequencing Methods The genotypes of rs1801282 and rs3856806 in PPAR-γ2 gene were identified. [Results] The frequency of T allele in rs3856806 locus of PPAR-γ2 gene in Han nationality (19.9%) was significantly higher than that in Korean (15.0%, P <0.05) ), There was no significant difference in genotype and allele frequencies of rs1801282 and rs3856806 in case group and control group (P> 0.05) .Patients and control group rs1801282 polymorphism and clinical phenotype (P0.05) .However, there was a significant correlation between rs3856806 locus polymorphism and waist circumference and high density lipoprotein cholesterol (P0.05) in Han nationality.Her haplotype Pro-T is a risk factor for T2DM (P = 0.048, OR = 1.699, 95% CI: 1.000-2.888). [Conclusion] rs1801282 and rs3856806 may be the Yanbian area Korean T2DM susceptibility locus, two loci Pro-T haplotype may be susceptibility factors of T2DM; rs1801282 and rs3856806 loci polymorphism there are ethnic differences.