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
ABSTRACT
Recurrent pregnancy loss [RPL] is a multifactorial disorder. Environmental factors and genetics can affect pregnancy outcomes. Conflicting data suggest an association between estrogen receptor alpha [ESR1] gene polymorphisms and RPL. In this study, such association was investigated in Iranian women with RPL. In this case control study, blood samples were collected from 244 women with a history of three or more consecutive pregnancy losses and 104 healthy women with at least two live births. Using polymerase chain reaction- restriction fragment length polymorphism [PCR-RFLP], we studied -397C/T and -351A/G polymorphisms on ESR1 gene in case and control subjects. The genotypic frequencies of -397C/T and -351A/G polymorphisms on ESR1were not significantly different between RPL and control groups [p=0.20 and p=0.09, respectively]. A significantly negative correlation was observed between -397C/T and -351A/G [r=-0.852, p<0.001] in RPL women and complete linkage disequilibrium between the investigated polymorphisms was found [D': 0.959; r-square= 0.758, p<0.001]. This investigation suggests that the analyzed polymorphisms on ESR1gene are not associated with an increased risk of RPL in the studied population