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. 2017 Jul-Sep;9(3):150-154.

Polymorphisms in the Estrogen Receptor Beta Gene and the Risk of Unexplained Recurrent Spontaneous Abortion

Marzieh Mahdavipour  1 , Saeed Zarei  2 , Ramina Fatemi  1 , Haleh Edalatkhah  3 , Hamed Heidari-Vala  3 , Mahmood Jeddi-Tehrani  2 , Farah Idali  1
Affiliations

Polymorphisms in the Estrogen Receptor Beta Gene and the Risk of Unexplained Recurrent Spontaneous Abortion

Marzieh Mahdavipour et al. Avicenna J Med Biotechnol. 2017 Jul-Sep.

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 rs1256030 C/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.

Keywords: Estrogen receptor; Habitual abortion; Polymerase chain reaction; Restriction fragment length polymorphism; Single-nucleotide polymorphism.

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Conflict of interest statement

Conflict of Interest The authors declare that they have no conflict of interests.

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