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

Sep 28, 2026

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Objective: This study evaluates whether single-nucleotide polymorphisms (SNPs) in IKZF1, ARID5B, and CEBPE are associated with acute lymphoblastic leukemia (ALL) susceptibility in Chinese children. Methods: A case-control design included 360 ALL patients and 398 healthy controls. Nine SNPs were genotyped, and genetic associations with ALL risk were assessed using logistic regression under multiple genetic models. Multifactor dimensionality reduction (MDR) was used to examine SNP-SNP interactions. Results: Seven of nine SNPs showed significant associations, including increased risk for specific IKZF1 and CEBPE variants and decreased risk for selected ARID5B and CEBPE variants. Stratified analyses indicated age- and sex-specific patterns, and MDR identified significant four-SNP interactions with the best predictive performance.

LanguageEnglish

CategoryHealthcare

FormatPDF

Pages9

Reading Time23 min

AccessFree to download

Introduction

Methods

Case-control design

Genotyping and statistical analysis

MDR interaction analysis

Results

SNP-main effects

Stratified analyses

SNP-SNP interactions and MDR model

Conclusion

Global Medical Genetics 12 (2025) 100084 journal Contents lists available at ScienceDirect Global Medical Genetics [homepage:](homepage: www.keaipublishing.com/en/journals/gmg/)[ www.keaipublishing.com/en/journals/gmg/](homepage: www.keaipublishing.com/en/journals/gmg/) Genetic susceptibility of IKZF1, ARID5B, and CEBPE polymorphisms to childhood acute lymphoblastic leukemia in Chinese populations: a case-control study Xiaoqing Caoa, Yong Wanga,b, Yurou Kanga, Muhammad Usman Abubakarc,d, Yanli Yange,⁎, Daihua Fangf,⁎, Bangshun Hea,⁎ a Department of Laboratory Medicine, Nanjing First Hospital, Nanjing Medical University, Nanjing, Jiangsu Province 210006, China b Department of Laboratory Medicine, Nanjing Tongren Hospital, School of Medicine, Southeast University, Nanjing, Jiangsu Province 211102, China c Department of Clinical Pharmacy, School of Basic Medicine and Clinical Pharmacy, Pharmaceutical University, Nanjing, Jiangsu Province 211198, China d Department of Laboratory Medicine, Nanjing First Hospital, China Pharmaceutical University, Nanjing, Jiangsu Province 210006, China e Department of Laboratory Medicine, Children’s Hospital of Nanjing Medical University, Nanjing, Jiangsu Province 210008, China f Department of Blood Transfusion, The Affiliated Xuzhou Children’s Hospital of Xuzhou Medical University, Xuzhou, Jiangsu Province 221006, China A R T I C L E I N F O Keywords: Acute lymphoblastic leukemia Single nucleotide polymorphism SNP-SNP interaction A B S T R A C T 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. Introduction Acute lymphoblastic leukemia (ALL) is a malignant proliferation of lymphocytes blocked in the early stages of differentiation, which can invade the bone marrow, blood and extramedullary sites [1]. ALL have a high incidence among children, with a ⁎ Corresponding authors. E-mail addresses: [670148859@qq.com](670148859@qq.com) (Y. Yang), [fangdaihua@163.com](fangdaihua@163.com) (D. Fang), [bhe@njmu.edu.cn](bhe@njmu.edu.cn) (B. He). [https://doi.org/10.1016/j.gmg.2025.100084](https://doi.org/10.1016/j.gmg.2025.100084) Received 19 November 2025; Received in revised form 2 December 2025; Accepted 2 December 2025 Available online 4 December 2025 2699-9404/© 2025 The Authors. Publishing services by Elsevier B.V. on behalf ofKeAi Communications Co. Ltd. This is an open access article under the CC BY license ([http://creativecommons.org/licenses/by/4.0/](http://creativecommons.org/licenses/by/4.0/)). heterogeneous distribution by age, gender and geographic region [2–4], and the peak incidence of ALL is between 2 and 5 years of age, and more than 50 % are diagnosed before age 20 [5,6]. Although environmen

FAQs

What was the objective of this study?

To assess whether SNPs in IKZF1, ARID5B, and CEBPE are associated with childhood acute lymphoblastic leukemia susceptibility in Chinese children.

How were genetic associations with ALL risk analyzed?

Nine SNPs were genotyped in 360 ALL patients and 398 healthy controls, and logistic regression was used under various genetic models.

Which SNPs were linked to increased or reduced ALL risk?

Seven SNPs were significant: IKZF1 (rs11980379, rs4132601, rs10272724) and CEBPE (rs4982731) increased risk, while ARID5B (rs10994982, rs10821938) and CEBPE (rs2144827) were associated with reduced risk.

What did MDR analysis reveal about SNP-SNP interactions?

MDR identified significant SNP-SNP interactions, and a robust four-SNP model (rs10994982, rs2144827, rs10272724, rs10821938) produced the best predictive performance for ALL risk.

Sep 28, 2026

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