Su Yan, Peng Shu-Bin, Li Zhi-Qiong, Huang Qing-Yang
College of Life Sciences, Central China Normal University, Wuhan 430079, China.
Yi Chuan. 2008 Mar;30(3):304-8. doi: 10.3724/sp.j.1005.2008.00304.
To investigate the association between single nucleotide polymorphisms (SNPs) rs2970847(Thr394Thr) and rs8192678(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 re-gression 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, Plt;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.
研究过氧化物酶体增殖物激活受体γ共激活因子-1（PPARGC1A）基因的单核苷酸多态性（SNP）rs2970847（Thr394Thr）和rs8192678（Gly482Ser）与湖北汉族人群2型糖尿病之间的关联。对307名对照者和344名2型糖尿病患者的PPARGC1A基因的Thr394Thr和Gly482Ser多态性进行基因分型。进行单标记/单倍型关联分析和逻辑回归分析。对于Thr394Thr多态性，病例组和对照组之间在基因型和等位基因频率上观察到显著差异（基因型，P = 0.006；等位基因，P < 0.001）。Thr394Thr多态性的AA基因型和单倍型Thr394（ACA）-Ser482与2型糖尿病显著相关。对于Gly482Ser多态性，病例组和对照组之间在基因型和等位基因频率上未发现差异。PPARGC1A是湖北汉族人群2型糖尿病的一个易感基因。
