基础医学与临床 ›› 2013, Vol. 33 ›› Issue (3): 346-349.

• 研究论文 • 上一篇    下一篇

CDKAL1基因rs4712523多态性与内蒙古地区汉族人群2型糖尿病相关

李晓晶1,苏燕1,闫朝丽2,顾丽1,李彩萍2,李爱珍2   

  1. 1. 包头医学院
    2. 内蒙古医科大学 第一附属医院
  • 收稿日期:2012-04-24 修回日期:2012-09-21 出版日期:2013-03-05 发布日期:2013-03-05
  • 通讯作者: 苏燕 E-mail:synmg@126.com
  • 基金资助:
    内蒙古自治区科技计划项目;内蒙古自然科学基金面上项目;包头医学院秦文斌助研基金

CDKAL1 rs4712523 polymorphism associates with type 2 diabetes in Han population of Inner Mongolia

  1. 1. Βaotou Medical College
    2.
  • Received:2012-04-24 Revised:2012-09-21 Online:2013-03-05 Published:2013-03-05
  • Supported by:
    Inner Mongolia Autonomous Region Science and Technology Project;Inner Mongolia Natural Science Foundation Project

摘要: 目的 研究内蒙古地区汉族人群CDKAL1基因rs4712523单核苷酸多态性(SNP)的等位基因和基因型频率分布与2型糖尿病(T2DM)的相关性。方法 采用等位基因特异性聚合酶链式反应(AS-PCR),对382例内蒙古地区汉族人(其中T2DM组192例,对照组190例)rs4712523进行基因分型。结果 T2DM组中rs4712523的G等位基因频率和GG基因型频率分别为47.4%和6.3%,均显著高于对照组的35.3%和3.2%(P<0.05)。G等位基因携带者患T2DM的风险是A等位基因的1.654倍(OR=1.654,95%CI=1.237-2.212)。结论CDKAL1基因rs4712523多态性位点的G等位基因可能是内蒙古地区汉族人T2DM的易感基因之一。

关键词: 2型糖尿病1, 单核苷酸多态性2, CDKAL1基因3

Abstract: Objective To study association of alleles and genotype frequencies of rs4712523 single nucleotide polymorphism in CDKAL1 gene with type 2 diabetes mellitus (T2DM) in Han population of Inner Mongolia. Methods Using allele-specific polymerase chain reaction (AS-PCR), the rs4712523 polymorphism of CDKAL1 gene was genotyped in 382 Han population of Inner Mongolia, including 190 T2DM patients and 192 controls. Results In T2DM group, the frequencies of G allele and GG genotype of rs4712523 were 47.4%and 6.3% respectively, they were significantly higher than those (35.3%and 3.2%) in the control group (P<0.05). The risk of T2DM of G allele was 1.654 fold higher than A allele (OR=1.654, 95%CI=1.237-2.212). Conclusions G allele of rs4712523 polymorphism site in CDKAL1 gene might be a susceptible gene of T2DM in Han population of Inner Mongolia.

Key words: Type 2 diabetes 1, single nucleotide polymorphism 2, CDKAL1 3

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