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对来自不同祖先的急性淋巴细胞白血病儿童静脉血栓的基因组分析
Yan Zheng1, Wenjian Yang2, Jeremie Estepp3
1Departments of Pathology.
Haematologica
|July 6, 2023
概括
这项研究研究了急性淋巴细胞白血病 (ALL) 的儿童静脉血栓的遗传因素. 红细胞相关的遗传变异,特别是在ABO基因附近,显示出与血栓形成风险增加的显著关联.
科学领域:
- 血液学 血液学 血液学
- 遗传学 是一个遗传学.
- 儿科瘤学 儿科瘤学
背景情况:
- 静脉血栓是儿科急性淋巴细胞白血病 (ALL) 治疗中的一个显著不良事件.
- 以前的遗传研究受到范围和人口多样性的限制.
研究的目的:
- 在多样化的儿科ALL队列中全面评估血栓形成的遗传风险因素.
- 为了确定新的遗传关联,并确认已知的临床风险因素.
主要方法:
- 对1005名新诊断ALL的儿童进行了回顾性队列研究.
- 用于基因分析的全基因组单核酸多态化 (SNP) 阵列.
- 考克斯回归分析调整临床因素和遗传祖先.
主要成果:
- 血栓形成的累积发病率为7.8%.
- 高龄,T血统ALL和非O血型是显著的临床风险因素.
- 没有单个核酸多态 (SNP) 达到全基因组显著性,但rs2874964 (靠近RFXAP) 和rs55689276 (靠近α球蛋白) 显示出强烈的关联,特别是在非欧洲祖先. 在ABO中的rs2519093在GWAS目录SNP中最强烈相关.
结论:
- 已知的临床风险因素用于小儿ALL的血栓形成得到证实.
- 在这个多样化的队列中,血栓形成的遗传风险与与红细胞相关的SNP有关,突出显示了它们的重要性.
- 对与红细胞相关的遗传因素进行进一步的研究是有必要的,以预测ALL中的血栓形成风险.
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