Qian Xi-Feng, Yang Guo-Hua, Yin Chen-Yu, Chen Xiang, Shen Yun-Feng
Department of Hematology, Nanjing Medical University, Wuxi, Jiangsu Province, China.
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2012 Oct;20(5):1280-3.
Childhood acute lymphoblastic leukemia (C-ALL) is the most common pediatric cancer. Although its etiology remains poorly understood, the hypothesis of ALL correlated with a genetic basis was examined through association studies based on candidate genes. Recently, two independent large-scale genome-wide association studies reported that the five single nucleotide polymorphisms (rs7073837; rs10821936; rs10994982; rs7089424; rs10740055) in the gene AT rich interactive domain 5B (ARID5B) at 10q21.2, were associated with the high incidence risk of C-ALL, especially with hyperdiploid lymphoblastic leukemia. Variations in these single nucleotide polymorphisms influence the risk of specific disease subtypes, and also possess race- and sex-differences in leukemia incidence. Further elucidation of the mechanisms through which ARID5B variants are involved in C-ALL not only has a great diagnostic value, but also a guidance for the clinical therapy, ultimately improving the prognosis of disease. Therefore, the related studies of ARID5B with C-ALL were summarized briefly in this review.
儿童急性淋巴细胞白血病(C-ALL)是最常见的儿科癌症。尽管其病因仍知之甚少,但通过基于候选基因的关联研究对与遗传基础相关的ALL假说进行了检验。最近,两项独立的大规模全基因组关联研究报告称,位于10q21.2的富含AT交互结构域5B(ARID5B)基因中的五个单核苷酸多态性(rs7073837;rs10821936;rs10994982;rs7089424;rs10740055)与C-ALL的高发病风险相关,尤其是与超二倍体淋巴细胞白血病相关。这些单核苷酸多态性的变异影响特定疾病亚型的风险,并且在白血病发病率方面也存在种族和性别差异。进一步阐明ARID5B变异体参与C-ALL的机制不仅具有重要的诊断价值,而且对临床治疗具有指导意义,最终改善疾病的预后。因此,本综述简要总结了ARID5B与C-ALL的相关研究。