身体质量指数的跨种族多基因风险评分:国际一百个K+队列联盟研究研究
Hui-Qi Qu1, John J Connolly1, Peter Kraft2
1The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Clinical and translational medicine
|June 20, 2023
概括
现在可以开发一个适用于全球的多基因风险评分 (PRS) 身体质量指数 (BMI). 基于欧洲祖先数据的跨种族PRS显示,在不同的人口中,预测能力有所提高,克服了以前的局限性.
科学领域:
- 遗传学 是一个遗传学.
- 人口遗传学 人口遗传学
- 生物信息学是一种生物信息学.
背景情况:
- 多基因风险评分 (PRS) 对诸如肥胖等复杂特征显示出有前景.
- 由于非欧洲人口的代表性不足,PRS的临床应用受到限制.
- 国际一百K+群体联盟 (IHCC) 旨在创建一个全球适用的身体质量指数 (BMI) PRS.
研究的目的:
- 开发和验证BMI的跨民族PRS.
- 解决非欧洲人群对PRS的数据缺口.
- 为了使PRS具有更广泛的临床实用性.
主要方法:
- 开发并测试了一种PRS模型,使用来自GIANT联盟的欧洲祖先BMI数据.
- 利用贝叶斯的方法 (例如LDpred) 来调整欧洲GWAS总结统计与跨民族联系不平衡 (LD) 参考面板.
- 在参与站点本地生成PRS,并为最终分析收集总结统计数据.
主要成果:
- 在没有跨种族GWAS的情况下,可以从欧洲祖先的GWAS数据中生成跨种族PRS.
- 调整欧洲GWAS总结统计与跨民族LD参考面板改善了PRS可移植性.
- 开发的跨民族PRS在非欧洲人群中表现优于特定人口的PRS,包括东亚人和巴西人.
结论:
- 调整欧洲GWAS总结统计与跨民族LD参考面板使得跨不同祖先的预测PRS成为可能.
- 这种方法提高了PRS在代表人数不足的人群中BMI等复杂特征的实用性.
- 该研究表明,创建全球适用的PRS的可行方法.
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