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

作　　者：徐霖 林春文 饶佳为 杨辉煌 谢宇荀 丁元林 孔丹莉 潘海燕 于海兵 XU Lin;LIN Chunwen;RAO Jiawei(Department of Epidemiology and Medical Statistics,Guangdong Medical University,Dongguan 523808,China)

机构地区：[1]广东医科大学流行病与卫生统计学教研室,东莞523808

出　　处：《中国糖尿病杂志》2021年第4期241-245,共5页Chinese Journal of Diabetes

基　　金：2018年度广东省医学科研基金(B2018074);2018年度广东省科技创新战略专项资金(2018A030310115);2018年东莞市社会科技发展(一般)项目(20185071521339);广东医科大学2017年度博士学位人员和人才引进人员科研启动项目(自然科学类)(B2017010);2018广东省普通高校青年创新人才项目(自然科学)(2018KQNCX088);2019年广东医科大学肾病研究所暨湛江市慢性肾脏病防控重点实验室开放基金(KF201905)。

摘　　要：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.

关 键 词：糖尿病 2型 单核苷酸多态性 过氧化物酶体增殖物激活受体γ辅助激活因子1α 

分 类 号：R587.1[医药卫生—内分泌]