Polymorphism of follicule stimulating hormone gene receptor in Albanian male population

doctoral thesis

• Title (croatian): Polimorfizam gena za receptor FSH u muškaraca albanske etničke pripadnosti
• Author: Shkelzen Elezaj https://orcid.org/0000-0002-0285-534X
• Mentor: Tamara Nikuševa Martić (mentor)
• Mentor: Fedora Stipoljev https://orcid.org/0000-0001-8328-8078 (komentor)
• Committee member: Hrvoje Vrčić (predsjednik povjerenstva)
• Committee member: Davor Ježek (član povjerenstva)
• Committee member: Fran Borovečki (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; Zagreb
• Defense date and country: 2020-07-09, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Clinical Biochemistry
• Universal decimal classification (UDC): 616 - Pathology. Clinical medicine

Abstract

Background: The purpose of this study was to determine the prevalence of allele and
genotype variants of 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. A total of 123 infertile men (35.04±5.85 years) stratified according
to the level of spermatogenetic impairment (oligoasthenozoospermia, asthenozoospermia, and
azoospermia), and 112 fertile men (36.44 ±7.05years) with normal semen parameters were
enrolled in this study. -----
Methods: Genotyping of the FSHR gene at position 680 was performed by TaqMan
genotyping assay. All participants underwent semen analysis; serum reproductive hormones
(FSH, luteinizing hormone, prolactin, and testosterone) were also measured. -----
Results: The FSHR Asn680Ser genotype frequencies were 42% Asn/Ser, 33.9% Ser/Ser, and
24.1% Asn/Asn for the control group, and 55.3% Asn/Ser, 25.2 % Ser/Ser and 19.5%
Asn/Asn for the overall infertile men group (P = 0.08,χ2 test). No statistically significant
correlation between serum hormonal levels and semen characteristics or fertility status and
FSHR Asn680Ser gene variants was found either in control subjects or the infertile men
group. 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). -----
Conclusion: In conclusion, our case-control study further confirmed previous reports of no
significant association between the FSHR Asn680Ser polymorphisms and male infertility.
Nevertheless, the data presented here indicate that Asn/Ser genotype may increase the risk for
male infertility in the Albanian population of the Dukagjini Region.

Abstract (croatian)

Cilj istraživanja bio je odrediti pojavnost alela i varijante genotipa receptora folikularno
stimulirajućeg hormona (FSHR) na poziciji Asn680Ser kod muškaraca albanske populacije, u
odnosu na kliničke parametre neplodnosti. Istraživanje obuhvaća 123 neplodnih muškaraca
(35.04±5.85 godina) svrstanih prema razini oštećenja spermiograma
(oligoasthenozoospermia, asthenozoospermia i azoospermia) te 112 plodnih muškaraca (36.44
±7.05 godina) s urednim nalazom spermiograma. -----
Methode: Genotipizacija gena FSHR na poziciji 680 učinjena je primjenom TaqMan probe.
Kod svih sudionika istraživanja učinjena je analiza sjemena i reprodukcijskih hormona
uključujući FSH, luteinizirajući hormon, prolaktin i testosteron. -----
Rezultati: U kontrolnoj skupini ispitanika kod FSHR Asn680Ser genotipa utvrđena pojavnost
Asn/Ser bila je 42%, Ser/Ser 33.9% i Asn/Asn 24.1% , dok se u skupini neplodnih ispitanika
incidencija kretala od 55.3% za Asn/Ser, 25.2 % za Ser/Ser i 19.5% za Asn/Asn (P =
0.08, χ2 test). Nije ustanovljena znakovita statistička povezanost između razine hormona,
karakteristika sjemena, stanja plodnosti u varijanti gena FSHR Asn680Ser u kontrolnoj
skupini u odnosu na ispitanike u skupini neplodnih muškaraca. Ipak, primjenom prilagođene,
logističke i regresijske analize (dob, indeks tjelesne mase, pušenje i alkohol kao kovarijabli)
utvrđeno je da postoji veća vjerojatnost javljanja muške neplodnosti kod nositelja heterozigota
Asn/Ser koji su povezani sa sniženim vrijednostima parametara sjemena (morfologija,
koncentracija, ukupan broj i pokretljivost). -----
Zaključci: Zaključno možemo utvrditi da ovo istraživanje potvrđuje ranija izvješća da ne
postoji znakovita povezanost između polimorfizma FSHR Asn680Ser i muške neplodnosti.
Ipak, navedeni podaci upućuju da Asn/Ser genotip može povisiti rizik muške neplodnosti u
Albanskoj populaciji Dukagjini Regije.

• Keywords: FSHR Asn680Ser gene polymorphisms; male infertility; Follicle stimulating hormone; luteinizing hormone; prolactin; testosterone; semen parameters
• Keywords (croatian): FSHR Asn680Ser polimorfizam gena; muski infertilitet; Follikulo stimulirajući hormon; Luteinizirajući hormon; prolaktin; testosteron; Sjemeni parameter
• Language: english
• URN:NBN: urn:nbn:hr:105:447780
• Study programme: Title: Biomedicine and Health Sciences; Study programme type: university; Study level: postgraduate; Academic / professional title: doktor/doktorica znanosti, područje biomedicine i zdravstvo (doktor/doktorica znanosti, područje biomedicine i zdravstvo)
• Type of resource: Text
• Extent: 126 str.
• File origin: Born digital
• Access conditions: Open access
• Created on: 2021-03-24 12:33:12