基础医学与临床 ›› 2013, Vol. 33 ›› Issue (8): 1004-1008.

• 研究论文 • 上一篇    下一篇

配对盒4基因Arg121Trg多态性与2型糖尿病的相关性

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   

  1. 1. 云南省第二人民医院检验科
    2. 中国科学院昆明动物研究所
    3. 云南省第二人民医院
  • 收稿日期:2012-08-31 修回日期:2012-10-25 出版日期:2013-08-05 发布日期:2013-07-18
  • 通讯作者: 袁文丽 E-mail:yuanwenli1018@163.com
  • 基金资助:
    云南省教育厅重点科研课题基金

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

  • Received:2012-08-31 Revised:2012-10-25 Online:2013-08-05 Published:2013-07-18

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75g葡萄糖耐量试验(OGTT)将1076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型糖尿病人群胰岛β功能进展性紊乱的一个分子标记。

关键词: 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

Abstract: Objective To investigate the association of paired box4 (Pax4) gene Arg121Trg single nucleotide polymorphism with impaired glucose tolerance in Kunming, Yunnan province. Methods 430 patients with type 2 diabetes mellitus(T2DM) , 200 people with impaired glucose tolerance (IGT) and 446 normal volunteers(NGT) were recruited in the study.Pax4 gene Arg121Trg single nucleotide polymorphism was identified by high resolution 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) This study indicated that 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 diabetes 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 genotype. Conclusions A allele of Pax4 gene Arg121Trg polymorphism might be a molecular marker for β cell function progressively deterioration in Kunming T2DM patient, Yunnan province.

Key words: Key words: Pax4 gene, polymorphism, type 2 diabetes mellitus, high resolution melting

中图分类号: