ABSTRACT
Background: 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, via 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 rs1256030C/T] in the estrogen receptor beta [ESR2] gene are associated with susceptibility to URSA in a population of Iranian women
Methods: 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 ESR2 gene were genotyped, using polymerase chain reaction- restriction fragment length polymorphism [PCR-RFLP] analysis
Results: 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
Conclusion: Our findings suggest that the studied SNPs on ESR2 gene may not be associated with URSA