Impact of polymorphisms in base excision repair genes on seminal fluid parameters

Aim: Abnormalities in sperm parameters can result from genetic variations in DNA repair genes. The base excision repair (BER) pathway is responsible for maintaining DNA integrity. Single-nucleotide polymorphisms (SNPs) in BER genes may influence sperm DNA fragmentation (SDF) and other seminal fluid parameters. Therefore, we conducted a study to investigate the impact of SNPs in BER genes, specifically XRCC1, OGG1, MUTYH, and APEX1, on SDF and seminal fluid parameters in a selected male population from the Gaza Strip. Methods: The case-control study included 75 men with elevated SDF and 74 men with normal SDF. Semen samples underwent conventional semen analysis and the SDF test. DNA extracted from the samples was genotyped for the selected polymorphisms using the allele-specific polymerase chain reaction (AS-PCR) technique. Genotypes and allele frequencies were compared between the case and control groups using standard statistical methods. Results: In terms of SDF, the XRCC1 rs25487 polymorphism showed a significant difference between cases and controls, with the C allele and the CC genotype being more prevalent (P-value = 0.004) in the control group. Additionally, the MUTYH rs3219489 polymorphism also had a significant difference, with the GC genotype being more frequent (P-value = 0.025) in the control group. However, OGG1 and APEX1 polymorphisms did not show a significant difference between the two groups. The examined polymorphisms were not significantly related to conventional semen parameters. Conclusions: This study highlights the effects of genetic variations in DNA repair genes, specifically XRCC1 and MUTYH, on SDF. Further studies with a larger sample size are necessary to confirm these findings and explore the impact of these SNPs on reproductive potential.