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ARID5B、IKZF1、PIP4K2A 和 GATA3 基因多态性对中国儿童急性淋巴细胞白血病的贡献。

Contributions of ARID5B, IKZF1, PIP4K2A, and GATA3 Gene Polymorphisms to Childhood Acute Lymphoblastic Leukemia in a Chinese Population.

机构信息

Clinical laboratory.

Department of Laboratory, Cancer Hospital Chinese Academy of Medical Science, Shenzhen Center, Shenzhen, Guangdong People's Republic of China.

出版信息

J Pediatr Hematol Oncol. 2023 Apr 1;45(3):123-129. doi: 10.1097/MPH.0000000000002646. Epub 2023 Mar 23.

Abstract

Various studies have shown that single nucleotide polymorphisms in the AT-rich interaction domain 5B (ARID5B), IKAROS family zinc finger 1 (IKZF1), phosphatidylinositol-5-phosphate 4-kinase type 2 alpha (PIP4K2A), and GATA binding protein 3 (GATA3) genes may be associated with the susceptibility and prognosis of childhood acute lymphoblastic leukemia (ALL). The present study aimed to investigate the association of ARID5B rs10821936, IKZF1 rs4132601, PIP4K2A rs7088318, and GATA3 rs3824662 gene polymorphisms with the susceptibility and prognosis of childhood ALL in China. We found that the C allele of rs10821936 (ARID5B) and the A allele of rs3824662 (GATA3) were associated with an increased risk of childhood ALL in the Chinese population. There was no significant difference in frequencies of rs4132601 (IKZF1) and rs7088318 (PIP4K2A) genotypes and alleles between the childhood ALL and control groups. We observed that CC genotype of rs10821936 (ARID5B) was associated with increased rates of high-risk and moderate-risk childhood ALL. The rs10821936 (ARID5B) could serve as a potential biomarker for assessing the risk of childhood ALL in Chinese children.

摘要

多项研究表明,富含 AT 的相互作用结构域 5B(ARID5B)、IKAROS 家族锌指蛋白 1(IKZF1)、磷脂酰肌醇-5-磷酸 4-激酶 2A(PIP4K2A)和 GATA 结合蛋白 3(GATA3)基因中的单核苷酸多态性可能与儿童急性淋巴细胞白血病(ALL)的易感性和预后相关。本研究旨在探讨 ARID5B rs10821936、IKZF1 rs4132601、PIP4K2A rs7088318 和 GATA3 rs3824662 基因多态性与中国儿童 ALL 易感性和预后的关系。我们发现,ARID5B 基因 rs10821936 的 C 等位基因和 GATA3 基因 rs3824662 的 A 等位基因与中国人群儿童 ALL 的易感性增加有关。rs4132601(IKZF1)和 rs7088318(PIP4K2A)基因型和等位基因在 ALL 患儿组和对照组之间的频率无显著差异。我们观察到 rs10821936(ARID5B)的 CC 基因型与高风险和中危儿童 ALL 发生率的增加有关。rs10821936(ARID5B)可作为评估中国儿童 ALL 风险的潜在生物标志物。

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