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CEBPE 基因启动子多态性(rs2239630 G > A)评估在儿童 B 细胞急性淋巴细胞白血病中的意义。

Significance of CEBPE Gene Promoter Polymorphism (Rs2239630 G > A ) Assessment in Childhood B-cell Acute Lymphoblastic Leukemia.

机构信息

Clinical Pathology Department.

Pediatrics Department; Hematology and Oncology unit; Faculty of Medicine; Mansoura University, Egypt.

出版信息

J Pediatr Hematol Oncol. 2023 Apr 1;45(3):e334-e338. doi: 10.1097/MPH.0000000000002648. Epub 2023 Feb 20.

Abstract

BACKGROUND

A significant association has been reported between CEBPE gene promoter polymorphisms (rs2239630 G > A ) and the incidence of B-cell acute lymphoblastic leukemia (B-ALL). However, no previous study on this issue has been included among the Egyptian cohort of pediatric patients with B-ALL. Therefore, this study was designed to address the associations between CEBPE polymorphisms and susceptibility to B-ALL, as well as its impact on the outcome of B-ALL Egyptian patients with B-ALL.

PATIENTS AND METHODS

In the current study, we evaluated the rs2239630 polymorphism in 225 pediatric patients and 228 controls to assess the association of different rs2239630 genotypes with childhood susceptibility to B-ALL and the impact on the outcome of the patients.

RESULTS

The frequency of the A allele was significantly higher in the cases of B-ALL compared with the control group ( P = 0.004). By analyzing different genotypes for the predictive value of disease development, the GA and AA genotypes have been identified to be the highest among multivariate factors with an odds ratio of 3.330 (95% CI: 1.105-10.035). Likewise, the A allele was significantly associated with the shortest overall survival.

CONCLUSIONS

CEBPE gene promoter polymorphism (rs2239630 G > A ) AA is frequently associated with B-ALL; and has the worst overall survival among the 3 genotypes, followed by the GA and GG genotypes ( P < 0.001).

摘要

背景

已有研究报道,CEBPE 基因启动子多态性(rs2239630 G > A)与 B 细胞急性淋巴细胞白血病(B-ALL)的发病风险显著相关。然而,在埃及儿童 B-ALL 患者队列中,尚未有研究涉及这一问题。因此,本研究旨在探讨 CEBPE 多态性与 B-ALL 易感性的相关性,以及其对埃及 B-ALL 患者的影响。

患者与方法

在本研究中,我们评估了 225 例儿科患者和 228 例对照者中 rs2239630 多态性,以评估不同 rs2239630 基因型与儿童 B-ALL 易感性的关联,以及对患者预后的影响。

结果

与对照组相比,B-ALL 患者的 A 等位基因频率显著升高(P = 0.004)。通过分析不同基因型对疾病发展的预测价值,GA 和 AA 基因型被确定为多因素分析中最高的基因型,其比值比为 3.330(95%CI:1.105-10.035)。同样,A 等位基因与最短的总生存期显著相关。

结论

CEBPE 基因启动子多态性(rs2239630 G > A)AA 与 B-ALL 频繁相关;在这 3 种基因型中,AA 基因型的总体生存率最差,其次是 GA 和 GG 基因型(P < 0.001)。

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