配对盒4基因Arg121Trg多态性与2型糖尿病的相关性  

Association of paired box4 gene Arg121Trg polymorphism with type 2 diabetes mellitus

作　　者：邓德耀[1] 袁文丽[1] 杨双娟[2] 冯倩[1] 高宗鹰[1] 方芳[1] 李显丽[3] 

机构地区：[1]云南省第二人民医院检验科,云南昆明650021 [2]中国科学院昆明动物研究所遗传资源与进化国家重点实验室,云南昆明650223 [3]云南省第二人民医院内分泌科,云南昆明650021

出　　处：《基础医学与临床》2013年第8期1004-1008,共5页Basic and Clinical Medicine

基　　金：云南省教育厅重点科研课题基金(09C0306)

摘　　要：目的探讨配对盒4(Pax4)基因Arg121Trg多态性(rs114202595)与云南省昆明地区2型糖尿病的相关性。方法根据口服75 g葡萄糖耐量试验(OGTT)将1 076例云南省昆明地区人群分为2型糖尿病组(T2DM)、糖耐量减低组(IGT)和健康对照组(NGT),应用高分辨率熔解曲线分析方法 (HRM)检测Pax4基因Arg121Trg基因型,观察3组人群中基因型和等位基因的分布情况,同时分析T2DM人群中不同基因型相关临床变量的差异性。结果 1)Pax4基因Arg121Trg GG基因型(Arg/Arg)及A等位基因(Trg121)在T2DM组中的频率分别为0.909和0.047,在IGT组中为0.935和0.035,在NGT组中为0.939和0.03。2)T2DM组Arg121Trg多态性GA+AA基因型(Arg/Trg+Trg/Trg)人群胰岛素使用率显著高于GG基因型(Arg/Arg)人群(P=0.001),而其他临床变量在T2DM组中两种基因型人群间比较均无明显差异。结论 Pax4基因Arg121Trg多态性A等位基因可能是云南省昆明地区2型糖尿患者群胰岛β功能进展性紊乱的一个分子标记。Objective To investigate the association of paired box4 （Pax4） gene Arg121 Trg single nucleotide poly- morphism with impaired glucose tolerance in Kunming, Yunnan province. Methods To tally 430 patients with type 2 diabetes mellitus （T2DM）, 200 people with impaired glucose tolerance （IGT） and 446 normal volunteers （NGT） were recruited into the study. Pax4 gene Arg121Trg single nucleotide polymorphism was identified by high resolu- tion melting and DNA direct sequencing. The distribution of genotype and allele in three groups were investigated. We also observed the association of clinic phenotype with two subsets in type 2 diabetes mellitus group. Results 1 ） GG genotype and A allele frequencies of Pax4 gene Arg121Trg variant were 0. 909, 0. 047 in T2DM group,0. 935 and 0. 035 in IGT group, 0. 939 and 0. 03 in NGT group respectively. 2） Among 430 people with type 2 dia- betes mellitus, rate of insulin users was higher in GA/AA genotype compared with the patients with GG genotype （P =0. 001）. No significant difference of other clinical data was observed in T2DM patients with different geno- type. Conclusions A allele of Pax4 gene Arg121 Trg polymorphism might be a molecular marker for β cell function progressively deterioration in Kunming T2DM patient, Yunnan province.

关 键 词：配对盒4基因 多态性 2型糖尿病 高分辨率熔解曲线 

分 类 号：R587.1[医药卫生—内分泌]