PGC-1α基因Gly482Ser多态性与2型糖尿病的相关性研究

Association of PGC-1α Gene Polymorphism with Type 2 Diabetes Mellitus

目的了解云南省昆明地区PGC-1α基因Gly482Ser多态性与2型糖尿病的相关性.方法采集430例2型糖尿病患者(T2DM)和431例OGTT正常的健康志愿者(NGT)的血样,提取基因组DNA.应用高分辨率熔解曲线方法 (HRM)分析PGC-1α基因Gly482Ser基因型,观察T2DM人群中基因型和等位基因的分布情况.结果 PGC-1α基因Gly482Ser AA基因型及G等位基因在T2DM组中的频率分别为0.209和0.587,在NGT组中为0.139和0.651,2组之间差异有统计学意义(P<0.05).结论 PGC-1α基因Gly482Ser多态性与云南省昆明地区2型糖尿病相关.

Objective To investigate the association of PGC-1α gene G1y482Ser single nucleotide polymorphism with type 2 diabetes mellitus(T2DM) in Kunming,Yunnan province.Methods Four hundred and thirty patients with type 2 diabetes mellitus and 431 normal volunteers(NGT) were recruited in the study. Their blood specimens were collected to extract the genomic DNA. PGC-1α gene Gly482Ser(G>A) types were identified by HRM and DNA direct sequencing. The distribution of genotype and allele in T2DM group were investigated. Res ults AA genotype and G allele frequencies of PGC-1α gene GIy482Ser variant were 0.209 and 0.587 in T2DM group, and were 0.139 and 0.651 in NGT group,respectively. There were significant differences for the frequencies between the two groups(P<0.05).Conclus ion PGC-1α gene G1y482Ser single nucleotide polymorphism was associated with type 2 diabetes mellitus in Kunming,Yunnan province.