雌激素受体1基因多态性与不明原因复发性流产关系

目的:探究雌激素受体1(ESR1)基因多态性与不明原因复发性自然流产(URSA)关系。方法:选取本院88例URSA患者为URSA组,70例正常者为对照组,采用聚合酶链式反应-限制性片段多态性法检测外周血ESR1基因rs22234693、rs9340799、rs2046210位点多态性,酶联免疫吸附法检测血清雌二醇(E2)水平,化学发光法检测促卵泡刺激素(FSH)水平;胶体金法检测血清促黄体生成素(LH)水平,Hardy-weinberg遗传平衡定律验证基因型频率;logistic回归分析ESR1基因型与URSA发生风险关系;分析各位点基因型与激素水平关系。结果:URSA组FSH水平高于对照组,E2、LH水平低于对照组(P<0.05)。两组ESR1基因rs22234693、rs9340799、rs2046210位点基因频率符合Hardy-Weinberg遗传平衡定律。rs22234693位点T等位基因频率、rs9340799位点G等位基因频率、rs2046210位点T等位基因频率均高于对照组(P<0.05)。rs22234693、rs9340799、rs2046210位点突变型者血清E2、LH水平低于对照组(P<0.05)。rs22234693 TT和TC基因携带者发生URSA风险的相对危险度分别为CC等位基因的1.756倍和2.432倍,rs9340799 GG、AG基因携带者的发生URSA风险的相对危险度分别为AA等位基因的1.237倍和1.746倍,rs2046210 TT和TC基因携带者的发生URSA风险的相对危险度分别为CC等位基因的1.354倍和1.824倍。结论:ESR1基因rs22234693、rs9340799、rs2046210位点多态性与URSA发生有关,rs22234693位点C→T突变、rs9340799 A→G突变、rs2046210 C→T突变可增加URSA的发病风险。

The relationship between gene polymorphism of estrogen receptor 1 of women and their unexplained ecurrent spontaneous abortion occurance

Objective:To explore the relationship between gene polymorphism of estrogen receptor 1(ESR1)of women and their unexplained ecurrent spontaneous abortion(URSA)occurance.Methods:88 women with URSA were selected in URSA group,and 70 normal women were selected in the control group.The polymorphisms of rs22234693,rs9340799,and rs2046210 locus in ESR1 gene of peripheral blood cell of women were detected by polymerase chain reaction-restriction fragment polymorphism(PCR-RFLP).The serum estradiol(E2)level of all these women was detected by ELISA,follicle stimulating hormone(FSH)level was detected by chemiluminescence,and serum luteinizing hormone(LH)level was detected by colloidal gold method.The genotype frequencies were verified by Hardy-Weinberg's law of genetic balance.Logistic regression analysis was used to analyze the relationship between ESR1 genotype and the risk of URSA occrance.The relationship between the genotype and hormone level was analyzed.Results:The FSH level of women in URSA group was significant higher than that of women in the control group,but the levels of E2 and LH were significant lower than those of women in the control group(P<0.05).The frequencies of rs22234693,rs9340799,and rs2046210 locus in ESR1 gene of women in the two groups were all in accordance with Hardy-Weinberg's law of genetic balance.The frequency of T allele at rs22234693 loci,the frequency of G allele of rs9340799 loci,and the frequency of T allele at rs2046210 loci of women in URSA group were significant higher than those of women in the control group(P<0.05).The serum E2 and LH levels of women with rs22234693,rs9340799 and rs2046210 mutants were significant lower than those of women in the control group(P<0.05).The relative risk of URSA of women with rs22234693 TT or TC genes carried was 1.756 or 2.432 times of that of women with CC allele carried.The relative risk of URSA of women with rs9340799 GG or AG carried was 1.237 or 1.746 times of that of women with AA alleles carried.The relative risk of URSA of women with rs2046210 TT or TC genes carried was 1.354 or 1.824 times of that of women with CC alleles carried.Conclusion:The polymorphisms of rs22234693,rs9340799,and rs2046210 locus in ESR1 gene are associated with the occurrence of URSA,and C→T mutation at rs224693 loci,A→G mutation at rs9340799 loci,and C→T mutation at rs2046210 loci can increase the risk of URSA occurance.