雌激素受体α基因多态性与2型糖尿病的关联性分析

J4 ›› 2011, Vol. 37 ›› Issue (5): 861-866.

雌激素受体α基因多态性与2型糖尿病的关联性分析

官鑫^1,2,程熠³,李勇¹,翁熹君¹,史杰萍¹,刘雅文¹

1.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；2.吉林大学学报(医学版)编辑部,吉林长春 130021；3.吉林大学第一医院心血管疾病诊治中心,吉林长春 130021

收稿日期:2011-05-24 出版日期:2011-09-28 发布日期:2011-09-28
通讯作者: 刘雅文（Tel:0431-85619431,E-mail:ywliu@jlu.edu.cn） E-mail:ywliu@jlu.edu.cn
作者简介:官鑫（1985-）|女|黑龙江省同江市人|医学编辑|医学硕士|主要从事分子遗传流行病学方面的研究。
基金资助:
国家自然科学基金资助课题（30370669）

Relevance analysis on estrogen |receptor &alpha|gene polymorphism and type 2 diabetes mellitus

GUAN Xin^1,2,CHENG Yi³, LI Yong¹,WENG Xi-jun¹,SHI Jie-ping¹,LIU Ya-wen¹

1.Department of Epidemiology and Health Statistics,School of Public Health,Jilin University,Changchun 130021,China;2. Department of Medicine Edition,Journal of Jilin University, |Changchun 130021,China；3. Center of |Cardiovascular Disease Treatment,First Hospital|Jilin University,Changchun 130021,China

Received:2011-05-24 Online:2011-09-28 Published:2011-09-28

摘要/Abstract

摘要：

目的：探讨中国北方汉族人群雌激素受体α(ERα)基因多态性与2型糖尿病（T2DM）的关系，阐明ERα基因多态性与T2DM的关联性。方法：选择128例T2DM患者(病例组)和193例正常对照者(对照组)，采用聚合酶链式反应（ＰＣＲ）-限制性片段长度多态性（RFLP）方法检测病例组和对照组等位基因和基因型频数分布，分析病例组和对照组ERα基因上rs11155816、rs2077647和rs9397463位点的单核甘酸多态性（SNPs），应用多位点联合分析法对3个位点形成的单倍体型进行相对风险分析。结果：ERα基因rs11155816、rs2077647和rs 9397463位点在病例组和对照组中基因型频数分布均符合Ｈａｒｄｙ-Ｗｅｉｎｂｅｒｇ平衡定律（P>0.05）;病例组与对照组ERα基因rs11155816、rs2077647和rs9397463位点的等位基因频数和基因型频数分布差异均无统计学意义（P>0.05）;病例组和对照组ERα基因上的3个连锁不平衡区rs11155816-rs2077647（LD1）、rs11155816-rs9397463（LD2）和rs2077647-rs9397463 （LD3）形成的单倍型的分布差异无统计学意义（P>0.05）。结论：在中国北方汉族人群中ERα基因rs11155816、rs2077647和rs9397463位点的SNPs可能与T2DM的发生无关联。

关键词: 糖尿病,2型；雌激素受体α；单核苷酸多态性;rs11155816;rs2077647;rs9397463

Abstract:

Abstract:Objective To investigate the genetic association between the polymorphisms of estrogen receptor α(ERα) gene and type 2 diabetes mellitus(T2DM) in the Han population from North China，and to discuss the association between single nucleotide polymorphisms (SNPs) of ERα gene and T2DM.Methods 128 DM patients were selected as case group and 193 nomal persons as control group.The genotypic frequencies and the allelic frequencies of rs　11155816,rs 2077647 and rs 9397463 sites in two grops were compared by polymerase chain reaction (PCR) technique and restriction fragment length polymorphism(RFLP) method,the SNPs of rs11155816,rs2077647 and rs9397463 sites of ERα gene were analyzed, and the relative risk of the haplotypes combined by the three sites mentioned above was analyzed by link analysis of multiple sites.Results The genotypic frequencies of rs11155816,rs2077647 and rs9397463 site of ERα gene did not deviate 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 rs11155816,rs2077647 and rs9397463 sites between two groups（P>0.05）. There were no significant differences among the haplotypes formated by every two of rs 11155816,rs 2077647 and rs 9397463 sites（P>0.05）.Conclusion There may be no genetic associations between the polymorphisms of rs11155816,rs2077647 and rs9397463 on ERα gene and T2DM in the Han population from North China.

Key words: diabetes mellitus,type 2;estrogen , receptor alpha;single nucleotide polymorphismsrs;rs11155816;rs2077647;rs9397463

中图分类号:

R587.1

官鑫,程熠,李勇,翁熹君,史杰萍,刘雅文. 雌激素受体α基因多态性与2型糖尿病的关联性分析[J]. J4, 2011, 37(5): 861-866.

GUAN Xin,CHENG Yi, LI Yong,WENG Xi-jun,SHI Jie-ping,LIU Ya-wen. Relevance analysis on estrogen |receptor &alpha|gene polymorphism and type 2 diabetes mellitus[J]. J4, 2011, 37(5): 861-866.

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