Impact of DNA repair gene variants on male infertility susceptibility in south Indian population
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Keywords
DNA repair genes, Genetic polymorphism, Male infertility
Abstract
Aim: This study investigated the association of polymorphisms in four key DNA repair genes—XRCC1 (rs25487), XRCC3 (rs861539), XPD (rs13181), and APEX1 (rs1130409)—with male infertility risk in a South Indian population cohort.
Materials and Methods: A total of 150 male participants (100 infertile patients and 50 fertile controls) were included in a case–control study design. Genotyping of target loci was performed using the PCR-RFLP method, and genotype–phenotype associations were analyzed under codominant, dominant, and recessive inheritance models.
Results: A significant association was observed between the XRCC1 rs25487 AG genotype and male infertility risk (OR = 3.22, p = 0.02), indicating a potential heterozygote effect. XPD rs13181 AC genotype exhibited a strong correlation with infertility (OR = 5.81, p < 0.0001), suggesting that reduced nucleotide excision repair efficiency may increase susceptibility. In contrast, XRCC3 rs861539 showed no significant association under any genetic model. Notably, all infertile subjects carried the APEX1 rs1130409 GG genotype, whereas the TT genotype was exclusively detected among fertile controls, indicating a strong genetic predisposition likely linked to impaired base excision repair function.
Conclusion: The findings highlight the pivotal role of DNA repair gene polymorphisms—particularly in XRCC1, XPD, and APEX1—in modulating male infertility risk. These results underscore the potential value of incorporating genetic screening into infertility diagnostics and warrant further large-scale, multi-ethnic, and functional studies to elucidate the underlying molecular mechanisms.
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M. Venkateswara Rao
Department of Anatomy, Narayana Medical College, Nellore, Andhra Pradesh, India.
K. V. N. Geetha Devi
Department of Anatomy, ACSR Government Medical College, Dargamitta, Nellore, Andhra Pradesh, India.
D. Rajarajeswari
Department of Biochemistry, Narayana Medical College, Nellore, Andhra Pradesh, India.
K. Ashalatha
Department of Anatomy, Narayana Medical College, Nellore, Andhra Pradesh, India.