Impact of Polymorphisms in Base Excision Repair Genes on Seminal Fluid Parameters

Abnormalities in sperm parameters can result from genetic variations in DNA repair genes. The base excision repair (BER) pathway maintains DNA integrity. Single nucleotide polymorphisms (SNPs) in BER genes may influence sperm DNA fragmentation (SDF) and other seminal fluid parameters. Therefore, we investigated 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. A case‒control study included 75 men with elevated SDF and 74 men with normal SDF. Semen samples were subjected to conventional semen analysis and the SDF test. DNA extracted from the samples was then genotyped via the allele-specific polymerase chain reaction (AS‒PCR) technique. Genotypes and allele frequencies were compared between the case and control groups via standard statistics. In terms of SDF, the XRCC1 "rs25487" polymorphism significantly differed between cases and controls, where the C allele and the CC genotype were more prevalent (P value = 0.004) in the control group. Additionally, the MUTYH "rs3219489" polymorphism was significantly different, with the GC genotype being more frequent (P value = 0.025) in the control group. OGG1 and APEX1 polymorphisms, however, were not significantly different between the two groups. The examined polymorphisms were not significantly related to conventional semen parameters. 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 needed in order to confirm these findings and investigate the value of these SNPs on reproductive potential.