中文摘要：

对344例2型糖尿病患者和307名正常人PPARGC1A基因单核苷酸多态性rs2970847（Thr394Thr）和rs8192678（Gly482Ser）与2型糖尿病的关系进行了单标记和单体型关联分析以及Logistic回归分析。在单标记分析解中,对照组与病例组Thr394Thr的基因型和等位基因频率有显著差异（基因型,P=0.006;等位基因,P〈0.001）;Logistic回归分析和单标记分析表明,Thr394Thr的AA基因型及Thr394（ACA）-Ser482单体型增加患2型糖尿病的风险。Gly482Ser的基因型和等位基因频率在对照组与病例组间都无显著差异。认为PPARGC1A基因是湖北汉人的一个2型糖尿病易感基因。

英文摘要：

To investigate the association between single nucleotide polymorphisms （SNPs） rs2970847（Thr394Thr） and rsS192678（Gly482Ser） of peroxisome proliferators activated receptor gamma coactivator-1（PPARGC1A）gene and type 2 diabetes in Chinese Han population in Hubei. The Thr394Thr and Gly482Ser polymorphisms of the PPARGC1A gene were genotyped in 307 controls and 344 type 2 diabetes patients. Single marker/haplotype association analyses and logistic regression analysis were performed. Significant differences in genotypic and allelic frequencies were observed between cases and controls for the Thr394Thr polymorphism （genotype, P=0.006; allele, P〈0.001）. The genotype AA of the Thr394Thr polymorphism and the haplotype Thr394（ACA）- Ser482 were significantly associated with type 2 diabetes. No differences in the genotypic and allelic frequencies between cases and controls were found for the Gly482Ser polymorphism. PPARGC1A is a susceptibility gene for type 2 diabetes in Chinese Han population in Hubei.