Y-chromosome haplogroups and Azoospermia Factor (AZF) analysis in Tunisian infertile male

Abstract

The aim of the present study was to clarify the implication of Y chromosome genetic variations and haplogroups in Tunisian infertile men. A total of 27 Y-chromosomal binary markers partial microdeletions (gr/gr, b1/b3 and b2/b3) and copy number variation of DAZ and CDY genes in the AZFc region were analysed in 131 Tunisian infertile men with spermatogenic failure and severe reduced sperm concentrations and in 85 normospermic men as controls. Eleven different haplogroups in the overall population study (E3b2; J1J*, E1, E3b*, F, G, K, P/Q, R*, R1* and R1a1) were found. Interestingly, the J1J* haplogroup was significantly more frequent in azoo/oligospermic patients than in normospermic men (35.1% and 22.3%, respectively (p value = 0.04)). Results showed also that patients without DAZ/CDY1 copies loss and without partial microdeletions belonged to the R1 haplogroup. The relative high frequencies of two haplogroups, E3b2 (35.1%) and J (30%) was confirmed in Tunisia. We reported in the present study and for the first time, that J1J* haplogroup may confer a risk factor for infertility in the Tunisian population and we suggested that R1 haplogroup may ensure certain stability to Y-chromosome in Tunisian men.

Keywords:

• Male infertility
• Y chromosome haplogroups
• gr/gr microdeletion
• DAZ gene copies
• CDY1gene copies

Acknowledgments

We would like to thank all the study participants and all patients for their cooperation. We are grateful to Mr. Ashraf E. Sorour Professor of Medical Microbiology and Immunology, Faculty of Medicine, Cairo University for his kind collaboration.

Ethics approval

This study was approved by the ethical committee of the University Hospital of Sfax, Tunisia (reference number: 0465/2022).

Informed consent

Written informed consent was obtained from every participant.

Disclosure statement

No potential conflict of interest was reported by the author(s).

Additional information

Funding

This work was supported by The Tunisian Ministry of Higher Education, Scientific Research.