Genetic susceptibility of IKZF1, ARID5B, and CEBPE polymorphisms to childhood acute lymphoblastic leukemia in Chinese populations: a case-control study.

OBJECTIVE

This study aimed to evaluate the association of single nucleotide polymorphisms (SNPs) in IKZF1, ARID5B, and CEBPE with acute lymphoblastic leukemia (ALL) susceptibility in Chinese children.

METHODS

A case-control study was conducted involving 360 ALL patients and 398 healthy controls. Nine SNPs were genotyped, and their associations with ALL risk were analyzed using logistic regression under various genetic models. Multifactor dimensionality reduction (MDR) analysis was employed to investigate SNP-SNP interactions.

RESULTS

Seven of the nine SNPs were significantly associated with ALL susceptibility. Specifically, IKZF1 SNPs (rs11980379, rs4132601, rs10272724) and a CEBPE SNP (rs4982731) were associated with an increased risk of ALL. In contrast, ARID5B SNPs (rs10994982, rs10821938) and another CEBPE SNP (rs2144827) were associated with a reduced risk. Stratified analyses revealed age- and sex-specific associations. MDR analysis identified significant SNP-SNP interactions, with a robust four-SNP model (rs10994982, rs2144827, rs10272724, rs10821938) showing the best predictive performance for ALL risk.

CONCLUSION

Specific SNPs in IKZF1, ARID5B, CEBPE and their interactions are associated with childhood ALL susceptibility in Chinese populations, providing references for ALL risk stratification.