• Elezaj Shkelzen, Frane Paić, Feodora Stipoljev, Zafer Gashi, Afrim Zeqiraj, Albert Lila, and Tamara Nikuševa Martić.
• 1University of Zagreb, School of Medicine, Zagreb, Croatia; 2Laboratory for Epigenetics and Molecular Medicine, Department of Biology and Medical Genetics, School of Medicine, Zagreb, Croatia; 3Laboratory for Cytogenetics, Department of Gynecology and Obstetrics, Sveti Duh University Hospital, Zagreb, Croatia; 4Department of Biochemistry, FAMA College, Republic of Kosovo; 5Department of Gynecology, Regional Hospital, Gjakova, Republic of Kosovo.
• Acta Clin Croat. 2020 Mar 1; 59 (1): 374937-49.

AbstractThe purpose of this study was to determine the prevalence of allele and genotype variants of the follicle-stimulating hormone receptor (FSHR) gene polymorphic region at position Asn680Ser in the Albanian male population and associate them with the clinical parameters of infertility. The study included 114 infertile men (mean age 35.04±5.85 years) stratified according to the level of spermatogenetic impairment (oligoasthenozoospermia, asthenozoospermia and normospermia) and 112 fertile men (mean age 36.44±7.05 years) with normal semen parameters. Genotyping of the FSHR gene at position 680 was performed by TaqMan genotyping assay. All the participants underwent semen analysis, and serum reproductive hormones (FSH, luteinizing hormone, prolactin and testosterone) were also measured. The FSHR Asn680Ser genotype frequencies were as follows: Asn/Ser 42%, Ser/Ser 33.9% and Asn/Asn 24.1% in the control group, and Asn/Ser 56.1%, Ser/Ser 22.8% and Asn/Asn 21.1% in the whole group of infertile men (χ2-test: P=0.08). There was no statistically significant correlation between serum hormone levels and semen characteristics or between fertility status and FSHR Asn680Ser gene variants in the control group and the group of infertile men. However, adjusted logistic regression analysis (age, body mass index, smoking and alcohol as covariates) revealed increased odds ratio for male infertility among heterozygous Asn/Ser genotype carriers associated with lower values of semen parameters (normal morphology, concentration, total sperm count and motility). In conclusion, our case-control study further confirmed previous reports on no significant association between the FSHR Asn680Ser polymorphisms and male infertility. Nevertheless, the data presented herein indicate that the Asn/Ser genotype may increase the risk of male infertility in Albanian population.

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