促黄体生成素受体基因rs4539842、rs2293275位点多态性与卵巢反应性及妊娠结局的关系

Correlation between rs4539842 and rs2293275 polymorphisms of luteinizing hormone receptor gene of women and their ovarian response and pregnancy outcomes

目的:探讨辅助生殖技术(ART)患者促黄体生成素受体(LHR)基因rs4539842、rs2293275位点多态性与卵巢反应性及妊娠结局的关系。方法:纳入于本院接受新鲜周期体外受精/卵胞浆内单精子注射-胚胎移植(IVF/ICSI-ET)的不孕患者236例,提取外周血白细胞的基因组DNA,按LHR基因中不同多态性位点(rs4539842和rs2293275)的基因型分组,比较卵巢反应性与妊娠继续结局。结果:236例女性无一例发生rs4539842位点的突变。rs2293275位点突变GA+AA型患者与GG型患者相比,抗苗勒管激素(AMH)、窦卵泡数(AFC)、基础卵泡刺激素(BFSH)均无统计学差异(P>0.05),人绒毛膜促性腺激素(hCG)日直径≥14mm的卵泡数较少(8.05比10.04,P=0.069),促性腺激素(Gn)的使用剂量、取卵数、成熟卵子数、可利用胚胎数、慢反应和低反应发生率均无统计学差异(P>0.05),临床妊娠率明显增高(83.33%比57.95%,P=0.035)。结论:rs4539842位点突变较罕见;rs2293275位点的基因型与卵巢反应性无关,与临床妊娠率有关。

Objective:To investigate the correlation between rs4539842 and rs2293275 polymorphisms of luteinizing hormone receptor(LHR) gene of women after assisted reproductive technology and their ovarian response and pregnancy outcome.Methods:A total of 236 infertility women who had been given in-vitro fertilization/intracytoplasmic sperm injection-embryo transfer(IVF/ICSI-ET) in fresh embryo cycle were enrolled in this study.The genomic DNA of leukocytes in peripheral blood of these women was extracted.These women were divided in different groups according to the different genotype polymorphisms(rs4539842 site and rs2293275 site) of LHR gene of the women.The ovarian reactivity and pregnancy rate of the women were compared among these groups.Results:None of the 236 women had mutation of LHR gene in rs4539842 site.There were no significant differences in the anti-Mullerian hormone(AMH) level,the antral Follicle count(AFC),and the basal follicle stimulating hormone(BFSH) level between the women with the mutation of GA+AA in rs2293275 site and the women with the mutation of GG in rs2293275 site(P<0.05).The number of follicles with diameter ≥14mm(8.05) of the women with the mutation of GA+AA in rs2293275 site on the day of human chorionic gonadotropin(HCG) injection was lower than that(10.04) of the women with the mutation of GG in rs2293275 site(P=0.069).There were no significant differences in the dosage of gonadotropin(Gn) used,the number of oocytes obtained,the mature oocytes number,the available embryos number,and the incidences of ovarian poor response between the women with the mutation of GA+AA in rs2293275 site and the women with the mutation of GG in rs2293275site(P<0.05).The clinical pregnancy rate(83.3%)of the women with the mutation of GA+AA in rs2293275site was significantly higher than that(58.0%)of the women with the mutation of GG in rs2293275site(P=0.035).Conclusion:The mutation in rs4539842site of the infertility women is rare.The genetype of LHR gene in rs2293275site of the infertility women is not associated with their ovarian response,but which may be associated with their high clinical pregnancy rate.