Introduction: Genetic polymorphisms in DNA repair pathways can modulate DNA repair capacity and influence susceptibility to aging-related disorders, including Parkinson’s disease (PD). This study evaluated the association between the DNA ligase I rs20579 polymorphism and PD risk. Materials and Methods: Genotyping of DNA ligase I rs20579 was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 123 PD patients and 492 age- and sex-matched controls of Taiwanese Han ethnicity. Associations between rs20579 genotypes and PD risk were analyzed. Results: Among controls, the genotype distribution of rs20579 was 78.7% GG, 19.3% AG, and 2.0% AA, compared with 75.6%, 21.1%, and 3.3% among PD cases, respectively (p for trend=0.6290). No significant differences were observed in the prevalence of AG (p=0.6939) or AA (p=0.4908) genotypes between cases and controls. Allelic analysis showed a non-significant increase in PD risk for A allele carriers (OR=1.21, 95% CI=0.80–1.83, p=0.4189). Stratified analysis revealed no significant genotype differences among males. In females, the AA genotype was associated with a borderline increased risk of PD (OR=1.86, 95% CI=1.00–3.47, p=0.0526). Conclusion: In this Taiwanese Han cohort, the DNA ligase I rs20579 A allele may be a genetic marker of increased PD susceptibility in females. Further studies in larger, independent populations are warranted to confirm its clinical relevance.
Chen et al. (Tue,) studied this question.