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  

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

作　　者：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] 

机构地区：[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

出　　处：《吉林大学学报（医学版）》2013年第6期1237-1241,共5页Journal of Jilin University：Medicine Edition

基　　金：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)

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HardyWeinberg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。Objective To investigate the association between the polymorphisms of 4 Tag SNPs of steroid receptor co-activator 1 （SRC-1） gene and type 2 diabetes mellitus （T2DM） in Han population from North China, and to discuss whether the SRC-1 gene was the predisposing gene of T2DM. Methods 190 T2DM patients were selected as case group and 193 normal persons were selected as control group. The genotypic frequencies and the allelic frequencies of rs3731628, rs4578807, and rs11677500 sites in two groups were compared by PCR technique and matrix-assisted laser desorption/ionization time of flight 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 rs3731628, rs4578807 and rs11677500 sites between two groups （P〉0.05）. There were no significant differences among the haplotypes formated by every two of rs3731628, rs4578807 and rs11677500 sites （P〉0.05）. Oonclusion 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.

关 键 词：基因多态性 2型糖尿病 关联性 遗传 基因型 频数 

分 类 号：Q343.1[生物学—遗传学]