吉林大学学报(医学版)

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类固醇受体辅激活因子1基因多态性与2型糖尿病的关联性分析

石 鑫1，官 鑫2，唐 媛3，吕 乐3，乔乙春3，刘雅文3，李 勇3，程 熠1   

  1. 1.吉林大学第一医院心血管疾病诊治中心，吉林　长春 130021； 2.吉林大学学报编辑
    部，吉林　长春 130021；3.吉林大学公共卫生学院流行病与卫生统计学教研室，吉林　长春　130021
  • 收稿日期:2013-07-13 发布日期:2013-12-12
  • 通讯作者: 李 勇（Tel：0431-85619419，E-mail：515064792@qq.com）； 程 熠（Tel: 0431-88782104，E-mail：chengyi@jlu.edu.cn） E-mail:E-mail：515064792@qq.com；chengyi@jlu.edu.cn
  • 作者简介:石 鑫（1986-），女，黑龙江省哈尔滨市人，理学硕士，主要从事生物化学 方面的研究。
  • 基金资助:

    国家自然科学基金资助课题（30870952）；吉林省科技厅科研基金资助课题（200905185,20080735）

Association between SRC-1 gene polymorphism and type 2 diabetes mellitus

SHI Xin1,GUAN Xin2,TANG Yuan3,LYU Le3,QIAO Yi-chun3,LIU Ya-wen3,LI Yong3,CHENG Yi1   

  1. 1.Center of Cardiovascular Disease Treatment,First Hospital,Jilin University,
    Changchun 130021,China;2.Editorial Board,Journal of Jilin University,Changchun 130021,China;3.Department
    of Epidemiology and Health Statistics,School of Public Health,Jilin University,Changchun 130021,China
  • Received:2013-07-13 Published:2013-12-12

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摘要：

目的：探讨中国北方汉族人群类固醇受体辅激活因子1（SRC-1）3个标签单核苷酸多态性(SNPs)(TagSNPs)位点基因多态性与2
型糖尿病（T2DM）的关系，阐明SRC-1基因是否为T2DM的易感基因。方法：选择190例T2DM患者（病例组）和193例正常对照者（对照组），应用PCR和基质辅助
激光解吸附电离飞行时间质谱分析技术（MALI-TOF-MS）检测2组研究对象SRC-1基因上的rs3731628、rs4578807和rs11677500位点的基因型和等位基因频数分布；应用单倍型法分析3个位点形成的多位点的联合作用与T2DM的关系。结果：SRC-1基因的rs3731628和rs11677500位点在病例组和对照组中的基因型频数分布
符合Hardy-Weinberg 平衡定律（P>0.05），rs4578807位点基因型在病例组与对照组中的频数分布不符合Hardy-Weinberg平衡定律（P<0.05）。病例组和对照组SRC-1基因的rs3731628、rs4578807和rs11677500位点的基因型和等位基因频数分布差异均无统计学意义（P>0.05），SRC-1基因上的3个位点组成的rs11677500-rs4578807、rs4578807-rs3731628和rs11677500-rs4578807-rs3731628 3个单倍体型系统在病例组和对照组中的分布差异均无统计学意
义（P>0.05）。结论：在中国北方汉族人群中SRC-1基因的rs3731628和rs11677500位点的SNPs可能与T2DM
的发生无关联，SRC-1基因可能不是T2DM的易感基因。

关键词: 基因多态性, 2型糖尿病, 关联性, 遗传, 基因型, 频数

Abstract:

Objective To investigate the  association between the polymorphisms of 4 Tag SNPs of steroid receptor co-activator 1（SRC-1）gene and type 2 d
iabetes mellitus（T2DM） in  Han population from North China,and to discuss whether the SRC-1 g
ene was the predisposing gene of  T2DM.Methods190 T2DM patients were selected as case group and 193 normal persons were select
ed as control group.The genotypic frequencies and the allelic frequencies of rs3731628,rs45788
07, and rs11677500 sites in two groups were compared by  PCR technique and matrix-assisted laser desorption/ionization time of fli
ght mass spectrometry(MAIL-TOF-MS) method; the relationship between the combined effects of multilocus from 3 sites
  of SRC-1  gene and T2DM  was analyzed by haplotype method.Results The genotypic frequencies of rs3731628 and rs11677500 sites of SRC-1  gene did not deviate from Hardy -Weinberg equilibrium in both case and control groups (P> 0.05).The genotypic frequencies of rs4578807 site o f SRC-1  gene deviated from Hardy -Weinberg equilibrium in both case and control groups (P<0.05).There were no significant differences of the frequencies of the genotypes and the alleles of rs37316
28,rs4578807 and rs11677500 sites between two groups(P>0.05).There were no significant differences among the haplotypes formated by every two of rs3731628,r
s4578807 and rs11677500 sites (P>0.05 ).Conclusion There may be no genetic association between the polymorphism of rs3731628 and rs11677500 sites of SRC-1
gene and T2DM in Han population from North China，and SRC-1 gene is not the predisposing gene.

Key words: gene polymorphism, type 2 diabetes , mellitus, association, heredity, genotype, frequency

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