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评估拉丁裔儿童急性淋巴细胞白血病的基因组多基因风险评分

Soyoung Jeon¹, Ying Chu Lo¹, Libby M Morimoto²

¹Center for Genetic Epidemiology, Department of Population and Public Health Sciences, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.

|September 15, 2023

概括

为儿童急性淋巴细胞白血病 (ALL) 开发多基因风险评分 (PRS) 模型至关重要. 目前的基因组PRS模型显示出有限的预测能力,特别是在拉丁裔儿童中,突出显示出需要更大,更具包容性的全基因组关联研究 (GWAS).

科学领域:

遗传学遗传学是一个
儿科瘤学儿科瘤学
生物统计学生物统计学

背景情况:

儿童急性淋巴细胞白血病 (ALL) 是最常见的儿科癌症.
多基因风险评分 (PRS) 模型越来越多地用于复杂的疾病,但它们对ALL的实用性,特别是在像拉丁裔儿童这样的多元人口中,被低估了.
现有的ALL PRS模型通常依赖于来自全基因组关联研究 (GWAS) 的有限位置.

研究的目的:

用不同的GWAS数据集构建和评估儿童ALL的基因组PRS模型.
评估PRS模型在非拉丁裔白人 (NLW) 和拉丁裔 (LAT) 儿童中的可转移性和性能.
将基因组PRS模型的预测精度与使用已知的ALL相关位点的常规模型进行比较.

主要方法:

开发并测试了基因组PRS模型,使用非拉丁裔白人 (NLW) GWAS数据和多祖先GWAS数据.
在持有NLW和LAT样本中使用PseudoR2指标评估模型性能.
将PRS模型性能与包含所有已识别的ALL相关位点的常规模型进行比较.

主要成果:

基因组PRS模型在NLW和LAT儿童中显示出适度的预测性能.
在LAT-only或多祖先GWAS数据上训练LAT儿童时,PRS模型的性能得到改善.
最好的基因组PRS模型没有超过包括所有已知的ALL位点的传统模型.
跨种群的可比性表现表明ALL的潜在共享遗传架构.

结论:

需要更大,更具包容性的GWAS来增强基因组PRS对儿童ALL的预测效用.
这些发现表明,ALL可能具有寡生结构,在整个人群中共享大效应的位置.
未来的PRS开发应该考虑超越无限因果位置假设的替代遗传模型.

关键词:

急性淋巴细胞白血病急性淋巴细胞白血病拉丁裔拉丁人是什么意思多基因风险得分的多基因风险得分.风险预测风险预测

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