Genotyping of the EIF1AY Gene in Iranian Patients with Non-Obstructive Azoospermia

Curr Urol. 2019 Sep;13(1):46-50. doi: 10.1159/000499295. Epub 2019 Sep 10.


Background: EIF1AY is one of the genes essential for normal spermatogenesis and is located in azoospermic factors region.

Objective: The present study was designed to investigate the EIF1AY gene nucleotide variations, and correlate it with spermatogenic maturation arrest and azoospermia in Iranian population.

Methods: A total number of 30 Iranian idiopathic non-obstructive azoospermic patients were selected as case group and 30 fertile men served as a control group who had at least 1 child. Nucleotide variation was analyzed in exon 3 and exon 5 in EIF1AY gene of both groups. DNA extraction from peripheral blood samples of selected individuals was done followed by amplification by PCR and sequencing with Sangar method.

Results: Totally 3 single nucleotide variations were identified: one in the intronic region of exon 3, next one in non-coding transcript exon variant (rs13447352) and the third one in the exonic region of exon 5, all were registered in NCBI-Gene database.

Conclusion: There was no statistically significant difference in the incidence of nucleotide variation between 2 study populations (p > 0.05). Further studies are required to specify the effects of Y: T20588295G variation on modification of protein structure, as well as the expression pattern of the gene and its association with azoospermia.

Keywords: Azoospermia; EIF1AY gene; Male infertility; Polymorphism; Spermatocyte maturation arrest.