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Impact of follicle-stimulating hormone receptor variants in female infertility

  • Genetics
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Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

Abstract

Purpose

Follicle-stimulating hormone (FSH) and its receptor play a major role in the development of follicles and regulation of steroidogenesis in the ovary and spermatogenesis in the testis. We aim to analyze the role of FSHR gene variants (single nucleotide polymorphisms (SNPs) in exon 10 (codon 307 and 680) and in the core promoter region (at position −29) and Ala189Val inactivating mutation) in Turkish infertile women. There were studies analyzing the effects of the SNPs in exon 10 (codon 307 and 680) and in the core promoter region (at position −29) of the FSHR gene on spermatogenesis, but to our knowledge, there were no studies analyzing the effects of these three SNP combinations on female fertility.

Methods

In this study, the allelic, genotype, and haplotype frequency distributions of these three SNPs in the FSHR gene were analyzed in 102 infertile women and 99 unrelated healthy control individuals. The distribution of the polymorphisms was conformed by Hardy–Weinberg equilibrium test.

Results

There were no statistical differences (P > 0.05) in the allele, genotype, and haplotype frequencies of the polymorphisms and FSH, luteinizing hormone (LH), estradiol (E2), and prolactin (PRL) levels between the infertile patients and the controls. However, a significant relation was found between 307 SNP GA genotype and FSH level ≥12. We did not find any homozygous or heterozygote mutations in infertile patients and healthy fertile controls.

Conclusion

The present study was the first study analyzing gma mutation and the polymorphism of the FSHR core promoter at position −29 alone and in combination with the two common SNPs in exon 10 in Turkish infertile women population. These findings indicate the significance of Ala307Thr GA genotype may be a predictive marker for poor ovarian reserve and infertility.

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Acknowledgments

We thank Zeynep Biyikli Gencturk for assistance in statistical analysis.

Author information

Author notes

  1. Nermin Seda Ilgaz

    Present address: Department of Medical Biology, School of Medicine, Çukurova University, Adana, Turkey

  2. Mehmet Taspinar

    Present address: Department of Medical Biology, School of Medicine, Yüzüncü Yıl University, Van, Turkey

Authors and Affiliations

  1. Department of Medical Biology, School of Medicine, Ankara University, 06100, Ankara, Turkey

    Nermin Seda Ilgaz, Oya Sena Erdogan Aydos, Aynur Karadag, Mehmet Taspinar & Asuman Sunguroglu

  2. Dr. Zekai Tahir Burak Women’s Health Training and Research Hospital, Ankara, Turkey

    Ozlem Gun Eryilmaz

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  1. Nermin Seda Ilgaz
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  2. Oya Sena Erdogan Aydos
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Correspondence to Oya Sena Erdogan Aydos.

Additional information

Capsule FSHR 307 GA genotypes is associated with impaired folliculogenesis and early diminished ovarian reserve.

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Ilgaz, N.S., Aydos, O.S.E., Karadag, A. et al. Impact of follicle-stimulating hormone receptor variants in female infertility. J Assist Reprod Genet 32, 1659–1668 (2015). https://doi.org/10.1007/s10815-015-0572-5

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