Understanding the biology of telomeres and the factors influencing their length remains incomplete due to their complexity. Similarly, the impact of telomeres on infertility has not yet been fully determined. In this study, we investigated telomere length (TL) and eight single nucleotide polymorphisms (SNPs) in genes associated with TL maintenance in men diagnosed with azoospermia (AZO) and oligoasthenoteratozoospermia (OAT), compared to a control group of fertile men. A total of 368 participants, aged between 19 and 55 years, were included in the analysis. Of the 368 participants, 98 were diagnosed with AZO, 135 with OAT, and 135 were classified as fertile controls. All AZO and OAT subjects had previously undergone genetic screening to exclude the most common causes of infertility. TL was measured using quantitative polymerase chain reaction (qPCR). SNPs were genotyped using TaqMan assays. We found that infertile men had significantly shorter telomeres compared to fertile controls (on average 1,85 times shorter), with no statistically significant difference between the AZO and OAT groups. Across all groups, TL was negatively correlated with age. SNP analysis revealed two statistically significant associations: the A allele of SNP rs1634382 in the YBX2 gene was more frequent in men with AZO (p=0,04), suggesting a role in early spermatogenesis. In the case of SNP rs11125529 in the ACYP2 gene, the C allele and C/C genotype were significantly more prevalent among men with OAT (p=0,01; p=0,02), indicating a potential association with reduced sperm motility. The remaining SNPs did not reach statistical significance but followed trends consistent with previous studies.
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