Impact of polymorphism in DNA repair genes OGG1 and XRCC1 on seminal parameters and human male infertility.
Anaís Garcia-RodriguezMoises de la CasaMalena SerranoJamie GosálvezRosa RoyPublished in: Andrologia (2018)
The DNA repair capacity in the mature spermatozoa is highly compromised due to the base-excision repair (BER) route being truncated. In the mature spermatozoa, only the first enzyme of the route (OGG1) is present. Consequently, reduced activity of the enzymes of the BER route both during spermatogenesis and in the mature spermatozoa may be detrimental for fertility. The objective of our study was to investigate the correlation between two representative SNPs of those enzymes, SNPs OGG1 Ser326Cys (rs1052133) and XRCC1 Arg399Gln (rs25487) and male infertility. A total of 313 seminal samples from infertile patients and 80 from donors with proven fertility were included in the study. All samples were subjected to a regular sperm analysis and genotyped using the PCR-RFLP system. We found significant differences in the genotype frequencies between patients and donors for the XRCC1 Arg399Gln polymorphism (χ2(2) = 8.7, p = 0.013), with the Gln allele showing a protective role and for the OGG1 Ser326Cys polymorphism between normozoospermic and non-normozoospermic patients (χ2(2) = 12.67, p = 0.002) with the Cys allele showing a detrimental effect over concentration. In conclusion, our study shows that polymorphisms in the genes coding for the DNA damage repair enzymes may be associated with poor sperm parameters and male infertility.
Keyphrases
- dna repair
- dna damage
- end stage renal disease
- dna damage response
- ejection fraction
- chronic kidney disease
- newly diagnosed
- genome wide
- oxidative stress
- endothelial cells
- adipose tissue
- type diabetes
- peritoneal dialysis
- gene expression
- transcription factor
- young adults
- skeletal muscle
- patient reported outcomes
- dna methylation
- kidney transplantation
- data analysis
- induced pluripotent stem cells