广东汉族人群PPARGC1A基因rs6821591和rs2970847位点单核苷酸多态性与2型糖尿病遗传易感性的关联研究

Association between single nucleotide polymorphisms at rs6821591 and rs2970847 of PPARGC1A gene and genetic susceptibility to type 2 diabetes mellitus in Guangdong Han population

目的探讨T2DM遗传易感性与广东汉族人群PPARGC1A基因rs6821591和rs2970847位点单核苷酸多态性(SNP)的关联。方法采用病例对照设计,运用SNPscan^(TM)分型技术检测T2DM组和正常对照组(NC)PPARGC1A基因rs6821591和rs2970847位点的基因型,比较两组基因型及等位基因频率分布。结果NC、T2DM组rs6821591位点T、C等位基因频率分别为67.31%、32.69%/67.57%、32.43%,rs2970847为23.91%、76.09%/23.95%、76.05%,两组双位点等位基因频率分布及TT/CT/CC基因型频率分布比较,差异无统计学意义(P>0.05)。调整协变量前后,两组rs6821591和rs2970847位点的隐性、显性、共显性及超显性遗传模型比较,差异无统计学意义(P>0.05)。结论T2DM遗传易感性可能与广东汉族人群PPARGC1A基因rs6821591和rs2970847位点SNP无明显关联。

Objective To explore the correlation between genetic susceptibility to T2DM and single nucleotide polymorphism(SNP)at rs6821591 and rs2970847 of PPARGC1 A gene in Guangdong Han population.Methods A case-control design was used.Single nucleotide polymorphism typing was used to detect the rs6821591 and rs2970847 genotypes of the PPARGC1 A gene in T2DM group and the normal control group(NC group).The genotypes and allele frequency distributions were compared between the two groups.Results The frequency of rs6821591 T and C alleles was 67.31%,32.69%/67.57%and32.43%in the NC group and T2DM group respectively.The frequency of rs2970847 T and C alleles was23.91%,76.09%/23.95%and 76.05%in the NC group and T2DM group respectively.There was no significant difference in the allele and genotype frequencies between the two groups(P>0.05).Before and after adjusting covariates,there was no significant difference in the recessive,dominant,codominant or superdominant genetic models of rs6821591 and rs2970847 between the two groups(P>0.05).Conclusion Genetic susceptibility of T2DM was associated with single nucleotide polymorphisms at rs6821591 andrs2970847 of PPARGC1 A gene in Guangdong Han population.