title: Impact of follicle-stimulating hormone receptor variants in female infertility.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Medical Biology, School of Medicine, Ankara University, 06100, Ankara, Turkey.|Department of Medical Biology, School of Medicine, Çukurova University, Adana, Turkey.
authors.forename: Nermin Seda
authors.initials: NS
authors.lastname: Ilgaz
authors.affiliation: Department of Medical Biology, School of Medicine, Ankara University, 06100, Ankara, Turkey. saydos@gmail.com.
authors.forename: Oya Sena Erdogan
authors.initials: OS
authors.lastname: Aydos
authors.affiliation: Department of Medical Biology, School of Medicine, Ankara University, 06100, Ankara, Turkey.
authors.forename: Aynur
authors.initials: A
authors.lastname: Karadag
authors.affiliation: Department of Medical Biology, School of Medicine, Ankara University, 06100, Ankara, Turkey.|Department of Medical Biology, School of Medicine, Yüzüncü Yıl University, Van, Turkey.
authors.forename: Mehmet
authors.initials: M
authors.lastname: Taspinar
authors.affiliation: Dr. Zekai Tahir Burak Women's Health Training and Research Hospital, Ankara, Turkey.
authors.forename: Ozlem Gun
authors.initials: OG
authors.lastname: Eryilmaz
authors.affiliation: Department of Medical Biology, School of Medicine, Ankara University, 06100, Ankara, Turkey.
authors.forename: Asuman
authors.initials: A
authors.lastname: Sunguroglu
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D003062:Codon; D004958:Estradiol / Q000097:blood; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood / Q000235:genetics; D005787:Gene Frequency; D006239:Haplotypes; D006801:Humans; D007247:Infertility, Female / Q000097:blood / Q000235:genetics*; D007986:Luteinizing Hormone / Q000097:blood / Q000235:genetics; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D011388:Prolactin / Q000097:blood / Q000235:genetics; D011401:Promoter Regions, Genetic; D011962:Receptors, FSH / Q000235:genetics*; D014421:Turkey
chemical_list: D003062:Codon; D011962:Receptors, FSH; D004958:Estradiol; D011388:Prolactin; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone
keywords: Follicle-stimulating hormone receptor; Infertility; Single nucleotide polymorphisms