在东亚人口中计算多基因风险得分的最佳方法和祖先的评估
Dong Jun Kim1, Joon Ho Kang1, Ji-Woong Kim1
1Genoplan Korea, Seoul, Korea.
Scientific reports
|November 6, 2023
概括
多基因风险评分 (PRSs) 显示出预测东亚人口疾病的前景. SBayesRC和PRS-CS方法表现最好,东亚祖先数据显示某些疾病的优势.
科学领域:
- 遗传学 遗传学 是一个
- 生物信息学是一种生物信息学.
- 人口健康 人口健康
背景情况:
- 多基因风险评分 (PRS) 对于疾病预测至关重要,但在东亚人群中尚未得到充分研究.
- 现有的PRS方法主要侧重于欧洲祖先,限制了它们在不同人群中的适用性.
研究的目的:
- 评估各种PRS计算方法在东亚人口中的预测性能.
- 为了比较东亚与欧洲全基因组关联研究 (GWAS) 数据在这个人口群中的PRS生成的实用性.
主要方法:
- 使用韩国健康检查 (HEXA) 数据进行模拟研究,以比较PRS方法 (SBayesRC,PRS-CS,lassosum,LDpred-funct,PRSice).
- 使用来自欧洲 (英国生物银行) 和东亚 (日本生物银行) 祖先的HEXA数据和GWAS,为十种疾病生成现实世界的PRS.
- 应用PRS-CSx,一种结合多祖先GWAS数据的方法.
主要成果:
- 在模拟中,SBayesRC和PRS-CS表现出卓越的性能,特别是在高遗传性条件下.
- 在真实世界的数据分析中,SBayesRC始终优于其他方法.
- 与欧洲GWAS数据相比,东亚GWAS数据显示特定疾病 (乳腺癌,白内障,胃癌,T2D) 的预测性能更好.
结论:
- 建议在东亚人群中使用SBayesRC,以获得最佳的PRS性能.
- 使用非东亚GWAS数据生成的PRS仍然可以产生有价值的预测结果.
- 该研究强调了需要对祖先特定的PRS开发和验证的需要.
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