对代谢和心血管特征的多基因风险评分的可转移性在代表人数不足的人群中
Phongthana Pasookhush1,2, Apinya Surawit1,2, Sophida Suta1
1Siriraj Population Health and Nutrition Research Group, Research Department, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
NPJ genomic medicine
|November 21, 2025
概括
多基因风险评分 (PRSs) 对泰国人的遗传风险分层有希望,特别是在2型糖尿病和脂质特征方面. 然而,表现在祖先之间有所不同,突出了代表性不足的人口的局限性.
科学领域:
- 遗传学和基因组学 在
- 心血管和代谢疾病 心血管和代谢疾病
- 人口健康 人口健康
背景情况:
- 多基因风险评分 (PRS) 越来越多地用于遗传风险分层.
- 它们在多样化的祖先群体中的表现仍然是研究的关键领域.
- 了解PRS在代表性不足的群体中的实用性对于公平的医疗保健至关重要.
研究的目的:
- 评估泰国人口中八种心脏代谢特征的64个已发表的PRS的性能.
- 评估PRS对疾病风险分层的预测准确性和纵向效用.
- 在东南亚队列中确定影响PRS表现的因素.
主要方法:
- 利用4879名泰国人的归算SNP数组数据.
- 进行了横截面和六年纵向分析.
- 使用差异解释和曲线下的面积 (AUC) 评估预测性能.
主要成果:
- 对2型糖尿病 (T2D) 和脂质特征 (LDL-C,TC) 的PRS显示出最强的效用,解释了显著的特征变异 (高达9.8%的LDL-C).
- 在T2D PRS中,AUC达到0.70,并且随着时间的推移显示出一致的风险分层.
- 血糖特征和心血管疾病 (CVD) 的PRS显示出较弱的预测价值,其中一个CVDPRS显示出与风险的反向关联.
结论:
- 已发表的PRS显示了泰国人的T2D和脂质疾病风险分层的潜力.
- PRS性能的变化受到SNP保留和祖先相关的链接不平衡等因素的影响.
- 目前的PRS在代表性不足的东南亚人群中存在局限性,需要进一步开发和验证.
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