雌激素受体α基因多态性与2型糖尿病的关联性分析

Relevance analysis on estrogen receptor α gene polymorphism and type 2 diabetes mellitus

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。

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（P0.05）.There were no significant differences of the frequencies of the genotypes and the alleles of rs11155816,rs2077647 and rs9397463 sites between two groups（P0.05）.There were no significant differences among the haplotypes formated by every two of rs 11155816,rs 2077647 and rs 9397463 sites（P0.05）.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.