ERα基因多态性与复发性自然流产的关联性研究  

Association of ERα Polymorphism with Recurrent Spontaneous Abortion

作　　者：李可可 王璐[2] 赵君利[3] 霍正浩[1] 陆宏[1] LI Keke;WANG Lu;ZHAO Junli;HUO Zhenghao;LU Hong(Ningxia Medical University,Key Laboratory of Fertility Preservation and Maintenance of Ministry of Education/Basic Medical College/Key Laboratory of Reproduction and Genetics in Ningxia,Yinchuan750004,China;Reproductive Medical Center,Peking University People’s Hospital,Beijing100191,China;Reproductive Center of the General Hospital of Ningxia Medical University,Yinchuan 750004,China)

机构地区：[1]宁夏医科大学,教育部生育力保持省部共建重点实验室/基础医学院/宁夏回族自治区生殖与遗传重点实验室,银川750004 [2]北京大学人民医院生殖医学中心,北京100191 [3]宁夏医科大学总医院生殖中心,银川750004

出　　处：《宁夏医科大学学报》2019年第11期1096-1100,1107,共6页Journal of Ningxia Medical University

基　　金：宁夏自然科学基金(2018AAC03079)

摘　　要：目的分析雌激素受体α基因(ERα)rs2234693、rs9340799、rs3020314、rs37987584个单核苷酸多态性位点与宁夏汉族女性复发性自然流产(RSA)的关系。方法采用TaqMan探针基因分型法,比较ERα基因4个SNPs位点基因型及等位基因频率在RSA患者(病例组196例)和正常女性(对照组190例)的分布情况。结果ERα基因rs2234693位点等位基因频率在病例组(尤其在流产次数≥3次的病例组)和对照组间差异有统计学意义(P<0.05);两组ERα基因rs2234693位点基因型频率及rs9340799、rs3020314、rs3798758位点基因型及等位基因频率差异均无统计学意义(P均>0.05);ERα基因rs2234693、rs93407992个位点构建的CA和TA单倍型在病例组和对照组间差异均有统计学意义(P均<0.05)。结论宁夏汉族女性ERα基因rs2234693位点多态性与RSA的易感性及流产次数相关联;宁夏汉族女性ERα基因rs9340799、rs3020314、rs3798758位点基因多态性与RSA的易感性无关;ERα基因rs2234693、rs93407992个位点构建的CA单倍型可能是RSA发生的保护因素,TA单倍型可能是RSA的危险因素。Objective To analyze the association between four single nucleotide polymorphism(rs2234693,rs9340799,rs3020314,rs3798758)of estrogen receptorαgene(ERα)and the women with recurrent spontaneous abortion(RSA)of Ningxia Han women.Methods TaqMan probe genotyping method was used to compare the distribution of four SNPs and allele frequencies of ERαgene in RSA patients(196 cases)and normal women(190 cases in the control group).Results There was statistically significant difference in the allele frequency of ERαrs2234693 between the patient(especially the number of abortion≥3)and control groups(P<0.05).There were no significant difference in the genotype frequency of ERαrs2234693,in the genotype and allele frequency of ERαrs9340799,rs3020314,rs3798758 between the two groups(P all>0.05).There were statistical difference for CA and TA haplotypes composed of ERαrs2234693 and rs9340799 between the patient and control groups(P all<0.05).No significant differences were found in other haplotypes(P all>0.05).Conclusion The genetic polymorphism of ERαrs2234693 may be associated with susceptibility and the number of abortion of RSA in Ningxia Han women.The genetic polymorphisms of ERαrs9340799,rs3020314,rs3798758 are not associated with the susceptibility to RSA in Ningxia Han women.The CA haplotype constructed by ERαrs2234693,rs9340799 may be the protective factor of RSA,while TA haplotype may be the dangerous factor of RSA.

关 键 词：雌激素受体Α 复发性自然流产 基因 多态性 

分 类 号：R714.21[医药卫生—妇产科学]