Mahdavipour Marzieh, Zarei Saeed, Fatemi Ramina, Edalatkhah Haleh, Heidari-Vala Hamed, Jeddi-Tehrani Mahmood, Idali Farah
Reproductive Immunology Research Center, Avicenna Research Institute, ACECR, Tehran, Iran.
Monoclonal Antibody Research Center, Avicenna Research Institute, ACECR, Tehran, Iran.
Avicenna J Med Biotechnol. 2017 Jul-Sep;9(3):150-154.
Recurrent Spontaneous Abortion (RSA) is caused by multiple genetic and non-genetic factors. Around 50% of the RSA cases have no known etiology and are considered as Unexplained RSA (URSA). Estrogens, binding to their receptors, play an important role in female reproduction. This study aimed to investigate whether single nucleotide polymorphisms (SNPs; +1082G/A, +1730G/A and rs1256030 C/T) in the estrogen receptor beta () gene are associated with susceptibility to URSA in a population of Iranian women.
In this case-control study, the study groups consisted of 240 subjects with a history of URSA and 102 fertile women as controls. Serum levels of follicle stimulating hormone (FSH), luteinizing hormone (LH), and estradiol (E2) were measured on day 2-3 of menstrual cycle. Two functional SNPs, +1082G/A (a silent mutation in exon 5) and +1730G/A (3' untranslated region of the exon 8), and one intron, rs1256030C/T, in the gene were genotyped, using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis.
Serum levels of LH were significantly increased in URSA women. No significant differences in distribution of +1082G/A, +1730G/A and rs1256030C/T between URSA and control groups were observed.
Our findings suggest that the studied SNPs on gene may not be associated with URSA.
复发性自然流产（RSA）由多种遗传和非遗传因素引起。约50%的RSA病例病因不明，被视为不明原因复发性自然流产（URSA）。雌激素与其受体结合，在女性生殖中起重要作用。本研究旨在调查雌激素受体β（）基因中的单核苷酸多态性（SNP；+1082G/A、+1730G/A和rs1256030 C/T）是否与伊朗女性人群中URSA的易感性相关。
在这项病例对照研究中，研究组由240名有URSA病史的受试者和102名可育女性作为对照组组成。在月经周期的第2 - 3天测量血清卵泡刺激素（FSH）、黄体生成素（LH）和雌二醇（E2）水平。使用聚合酶链反应 - 限制性片段长度多态性（PCR - RFLP）分析对基因中的两个功能性SNP，+1082G/A（外显子5中的沉默突变）和+1730G/A（外显子8的3'非翻译区）以及一个内含子rs1256030C/T进行基因分型。
URSA女性的血清LH水平显著升高。在URSA组和对照组之间未观察到+1082G/A、+1730G/A和rs1256030C/T分布的显著差异。
我们的研究结果表明，基因上研究的SNP可能与URSA无关。
