Impact of DNA Ligase 1 Genotypes on Childhood Acute Lymphocytic Leukemia.

Background/aim: Genetic polymorphisms in DNA repair mechanisms can modulate overall DNA repair capacity, potentially influencing individual susceptibility to cancer. This study investigated the relationship between polymorphic variations in DNA ligase 1 and the risk of childhood acute lymphocytic leukemia (cALL).

Materials and methods: The genotypes of DNA ligase 1 rs20579 were determined using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. The study assessed the potential association between DNA ligase 1 rs20579 genotypes and cALL risk in a Taiwanese cohort, consisting of 266 cALL cases and an equal number of age- and sex-matched controls.

Results: The distribution of GG, AG, and AA genotypes for DNA ligase 1 rs20579 was 78.6%, 19.5%, and 1.9% among controls, and 76.0%, 21.4%, and 2.6% among cALL cases, respectively (p for trend=0.7111). No significant difference was observed in the distribution of AG and AA genotypes between the two groups (p=0.6340 and 0.7381, respectively). Allelic frequency analysis revealed that carriers of the variant A allele of DNA ligase 1 rs20579 had a non-significant increase in cALL risk compared to those with the wild-type G allele [odds ratio (OR)=1.17, 95% confidence interval (CI)=0.81-1.68, p=0.4583]. While no significant genotype distribution difference was noted among males (p=0.4635), females carrying the AG and AA genotypes exhibited a significantly increased risk of cALL (p=0.0328).

Conclusion: In the Taiwanese population, the variant A allele of DNA ligase 1 rs20579 may serve as a potential diagnostic marker for elevated cALL risk in young females.