D Tsitlakidis1,2,3, T Katopodi4, D G Goulis5, I Papadimas5, A Kritis6. 1. Laboratory of Physiology, Faculty of Health Sciences, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece. Damianos.tsitlakidis@gmail.com. 2. Unit of Reproductive Endocrinology, First Department of Obstetrics and Gynecology, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece. Damianos.tsitlakidis@gmail.com. 3. Diabetologie/Endokrinologie, III Medizinische Klinik, University Klinikum, Jena, Germany. Damianos.tsitlakidis@gmail.com. 4. Laboratory of Biology, Faculty of Health Sciences, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece. 5. Unit of Reproductive Endocrinology, First Department of Obstetrics and Gynecology, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece. 6. Laboratory of Physiology, Faculty of Health Sciences, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Abstract
BACKGROUND AND 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. PATIENTS AND 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.
BACKGROUND AND 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. PATIENTS AND 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.
Entities:
Keywords:
FSH receptor; FSHR; Fertility; Male infertility; Polymorphism; SNP
Authors: L Lazaros; N Xita; A Takenaka; N Sofikitis; G Makrydimas; T Stefos; I Kosmas; K Zikopoulos; E Hatzi; I Georgiou Journal: Andrologia Date: 2012-09-26 Impact factor: 2.775
Authors: M Grigorova; M Punab; O Poolamets; S Sõber; V Vihljajev; B Žilaitienė; J Erenpreiss; V Matulevičius; I Tsarev; M Laan Journal: Andrology Date: 2012-11-29 Impact factor: 3.842