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PPARGC1A基因Thr394Thr/ Gly482Ser多态性与2型糖尿病的关联研究

[Association study between PPARGC1A Thr394Thr/ Gly482Ser polymorphisms and type 2 diabetes].

作者信息

Su Yan, Peng Shu-Bin, Li Zhi-Qiong, Huang Qing-Yang

机构信息

College of Life Sciences, Central China Normal University, Wuhan 430079, China.

出版信息

Yi Chuan. 2008 Mar;30(3):304-8. doi: 10.3724/sp.j.1005.2008.00304.

Abstract

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.

摘要

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。

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