与多囊卵巢综合征排卵障碍关联的基因单核苷酸多态性  

Single nucleotide polymorphisms associated with ovulatory dysfunction in polycystic ovary syndrome

作　　者：张多加[1] 袁温鲜 马丽娜[2] 卢利歌 吴效科[1] ZHANG Duojia;YUAN Wenxian;MA Lina;LU Lige;WU Xiaoke(First Affiliated Hospital of Heilongjiang University of Chinese Medicine,Harbin,Heilongjiang 150040,China;Heilongjiang University of Chinese Medicine,Harbin,Heilongjiang 150040,China)

机构地区：[1]黑龙江中医药大学附属第一医院,黑龙江哈尔滨150040 [2]黑龙江中医药大学,黑龙江哈尔滨150040

出　　处：《中国优生与遗传杂志》2023年第4期871-875,共5页Chinese Journal of Birth Health & Heredity

基　　金：国家重点研发计划项目(2019YFC1709500);国家重大疑难疾病中西医临床协作试点项目(国中医药办医政发[2018]3号);黑龙江省“头雁”团队-中西医结合妇科特色技术创新团队黑龙江省“头雁”行动方案(黑政规[2019]2号);黑龙江省自然科学基金(LH2019H116)。

摘　　要：多囊卵巢综合征(PCOS)是一种常见的女性生殖内分泌疾病,在育龄期不孕患者中占有较大比例,且排卵障碍是PCOS女性不孕的主要原因之一。已知PCOS的发生发展与遗传、环境、精神及心理因素都存在一定的联系,其中遗传因素近年来被学者广泛关注,单核苷酸多态性(SNP)是人类基因多态性的一种形式,变异程度最高。卵泡刺激素(FSH)相关基因(rs10835638、rs6166、rs6165、rs1394205)、黄体生成素(LH)相关基因(rs1800447、rs34349826、rs1056917、rs13405728、rs2293275)、抗缪勒管激素(AMH)相关基因(rs10407022、rs2002555)、雄激素相关基因(rs2414096、rs700519)、雌激素相关基因(rs2234693、rs9340799、rs4986938、rs1256049)参与了卵泡的生长发育及成熟,其中,rs10835638、rs6166、rs6165、rs13405728、rs10407022、rs1256049可能是与PCOS排卵障碍关联的SNP,但仍需进一步的研究进行验证。本文主要围绕以上相关基因位点的SNP与PCOS患者排卵障碍的关联研究现状进行系统综述,以期为PCOS排卵障碍病理机制的研究及PCOS不孕症女性的精准靶向治疗提供新的思路。Polycystic ovary syndrome(PCOS)is a common female reproductive endocrine disorder that accounts for a large proportion of infertility in the reproductive years.Ovulatory dysfunction is one of the main causes of infertility in women with PCOS.The development of PCOS is known to be associated with genetic,environmental,psychiatric and psychological factors,among which genetic factors have received much attention in recent years,among which single nucleotide polymorphisms(SNP)are a form of human genetic polymorphism with the highest degree of variation.Follicle stimulating hormone(FSH)related genes(rs10835638,rs6166,rs6165,rs1394205),luteinizing hormone(LH)related genes(rs1800447,rs34349826,rs1056917,rs13405728,rs2293275),anti mullerian hormone(AMH)related genes(rs10407022,rs2002555),androgen related genes(rs2414096,rs700519),estrogen related genes(rs2234693,rs9340799,rs4986938,rs1256049)participate in the growth,development and maturation of follicles.Among them,rs10835638,rs6166,rs6165,rs13405728,rs10407022,rs1256049 may be SNPs associated with PCOS ovulation dysfunction,but further research is still needed to verify.In this paper,we systematically review the association between SNPs at these loci and ovulation disorders in PCOS patients,with the aim of providing new ideas for the study of the pathogenesis of ovulation disorders in PCOS and the precise targeting of treatment for women with PCOS infertility.

关 键 词：单核苷酸多态性 多囊卵巢综合征 排卵障碍 

分 类 号：R711.75[医药卫生—妇产科学]