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

**Authors:** Xiaoqing Cao, Yong Wang, Yurou Kang, Muhammad Usman Abubakar, Yanli Yang, Daihua Fang, Bangshun He

PMC · DOI: 10.1016/j.gmg.2025.100084 · Global Medical Genetics · 2025-12-04

## TL;DR

This study finds that certain genetic variations in Chinese children are linked to a higher or lower risk of developing acute lymphoblastic leukemia.

## Contribution

The study identifies specific SNPs in IKZF1, ARID5B, and CEBPE and their interactions that influence childhood ALL risk in Chinese populations.

## Key findings

- Seven SNPs were significantly associated with ALL susceptibility in Chinese children.
- A four-SNP model showed the best predictive performance for ALL risk.
- Age- and sex-specific associations were observed for some SNPs.

## Abstract

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.

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.

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.

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

## Linked entities

- **Genes:** IKZF1 (IKAROS family zinc finger 1) [NCBI Gene 10320], ARID5B (AT-rich interaction domain 5B) [NCBI Gene 84159], CEBPE (CCAAT enhancer binding protein epsilon) [NCBI Gene 1053]
- **Diseases:** acute lymphoblastic leukemia (MONDO:0004967)

## Full-text entities

- **Genes:** CEBPE (CCAAT enhancer binding protein epsilon) [NCBI Gene 1053] {aka C/EBP-epsilon, CRP1, IMD108, SGD1, c/EBP epsilon}, ARID5B (AT-rich interaction domain 5B) [NCBI Gene 84159] {aka DESRT, MRF-2, MRF2}, IKZF1 (IKAROS family zinc finger 1) [NCBI Gene 10320] {aka CVID13, Hs.54452, IK1, IKAROS, LYF1, LyF-1}
- **Diseases:** ALL (MESH:D054198)
- **Species:** Homo sapiens (human, species) [taxon 9606]
- **Mutations:** rs10994982, rs2144827, rs4132601, rs10821938, rs11980379, rs4982731, rs10272724

## Full text

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## Figures

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## References

63 references — full list in the complete paper: https://tomesphere.com/paper/PMC12755977/full.md

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Source: https://tomesphere.com/paper/PMC12755977