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. 2025 Jan-Feb;39(1):152-159.
doi: 10.21873/invivo.13813.

Impact of DNA Ligase 1 Genotypes on Childhood Acute Lymphocytic Leukemia

Affiliations

Impact of DNA Ligase 1 Genotypes on Childhood Acute Lymphocytic Leukemia

Pei-Chen Hsu et al. In Vivo. 2025 Jan-Feb.

Abstract

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.

Keywords: Acute lymphocytic leukemia; DNA ligase 1; childhood; genotypes; single nucleotide polymorphism.

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Conflict of interest statement

The Authors declare no conflicts of interest regarding this study.

Figures

Figure 1
Figure 1
The physical map of DNA ligase 1 rs20579 polymorphic site.
Figure 2
Figure 2
The distribution of DNA ligase 1 rs20579 various genotypes and alleles among the controls and cases according to their sex, (A) males and (B) females. The percentages of GG, AG and AA genotypes were plotted in the left, and the percentages of G (major allele) and A (minor allele) were plotted in the right. The statistical analysis results were also presented. Red letters mark statistical significance, p<0.05.

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