title: Association of follicle-stimulating hormone receptor single nucleotide polymorphisms with fertility in Greek men.
abstract: OBJECTIVE
  Although several epidemiological studies have been conducted, the impact of follicle-stimulating hormone receptor (FSHR) polymorphisms on male infertility remains unclear. The aim of this study was to investigate the prevalence of specific FSHR single nucleotide polymorphisms (SNPs) in the Greek population and associate the latter with the clinical phenotype.
  
  
  METHODS
  We enrolled 96 subjects: men with idiopathic non-obstructive azoospermia (n = 78) were compared with a control group of fertile men (n = 18) for SNPs in FSHR positions c.-29, c.566, c.919, and c.2039. The SNP in position 566 (c.566C > T) was assessed by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) and the other three SNPs (c.-29G > A, c.919A > G, c.2039A > G) with single-strand conformation polymorphism (SSCP); all of them were validated with DNA sequence.
  
  
  RESULTS
  No polymorphisms were detected in positions c.-29 and c.919 (c.-29G > A, c.919A > G). The heterozygous SNP (AG) at position 2039 was associated with different size of the right testis (p = 0.008). There was no association between the c.566C > T SNPs polymorphism and hormonal or semen parameters. The combination SNP 2039 AA with 566 CT revealed significant association with FSH and LH concentrations.
  
  
  CONCLUSIONS
  FSHR SNPs at positions c.-29, c.566, c.919, and c.2039 (c.-29G > A, c.566C > T, c.919A > G, c.2039A > G) do not appear to play specific roles in male infertility. Larger studies are needed to confirm these results.
authors.affiliation: Laboratory of Physiology, Faculty of Health Sciences, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece. Damianos.tsitlakidis@gmail.com.|Unit of Reproductive Endocrinology, First Department of Obstetrics and Gynecology, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece. Damianos.tsitlakidis@gmail.com.|Diabetologie/Endokrinologie, III Medizinische Klinik, University Klinikum, Jena, Germany. Damianos.tsitlakidis@gmail.com.
authors.forename: D
authors.initials: D
authors.lastname: Tsitlakidis
authors.affiliation: Laboratory of Biology, Faculty of Health Sciences, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece.
authors.forename: T
authors.initials: T
authors.lastname: Katopodi
authors.affiliation: Unit of Reproductive Endocrinology, First Department of Obstetrics and Gynecology, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece.
authors.forename: D G
authors.initials: DG
authors.lastname: Goulis
authors.affiliation: Unit of Reproductive Endocrinology, First Department of Obstetrics and Gynecology, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece.
authors.forename: I
authors.initials: I
authors.lastname: Papadimas
authors.affiliation: Laboratory of Physiology, Faculty of Health Sciences, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece.
authors.forename: A
authors.initials: A
authors.lastname: Kritis
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D003430:Cross-Sectional Studies; D020022:Genetic Predisposition to Disease; D006115:Greece / Q000453:epidemiology; D006801:Humans; D007248:Infertility, Male / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D011446:Prospective Studies; D011962:Receptors, FSH / Q000235:genetics*
chemical_list: D011962:Receptors, FSH
keywords: FSH receptor; FSHR; Fertility; Male infertility; Polymorphism; SNP