在非洲裔人群中,对原发性开角眼多基因风险评分的表现
Jennifer M Chang-Wolf1,2,3, Tyler G Kinzy4,5,6,7,8, Sjoerd J Driessen1,9
1Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands.
JAMA ophthalmology
|November 14, 2024
概括
对于初级开角青光眼 (POAG) 的多基因风险评分 (PRSs) 显示出跨祖先的不同表现. 虽然PRS可以改善风险分层,但由于预测准确性较低,因此对非洲祖先人口需要量身定制的模型.
科学领域:
- 遗传学 遗传学是一种遗传学.
- 眼科医生 眼科 眼科
- 人口健康 人口健康
背景情况:
- 主要开角青光眼 (POAG) 不成比例地影响非洲祖先的人群,但多基因风险评分 (PRS) 主要是在欧洲祖先队伍中开发和验证的.
- 这种差异限制了现有的POAG PRS对非洲裔个体的临床实用性,这些人面临更高的患病率和更糟糕的疾病结果.
研究的目的:
- 评估各种非洲祖先种群中已建立的POAG PRS的表现.
- 将这些PRS的预测能力与欧洲祖先样本进行比较.
- 评估对格洛科马血统特异性风险预测模型的需求.
主要方法:
- 一项多中心,横截面的研究分析了来自非洲血统青光眼患者遗传学 (GIGA),非洲血统个人青光眼遗传学 (GGLAD) 和百万退伍军人计划 (MVP) 数据集的数据.
- 评估了三个已建立的POAG PRS (Gharahkhani,Han和Craig) 的情况.
- 使用风险分层的赔率比率 (ORs),接收器运行特征曲线 (AUROC) 下的面积和责任确定系数 (R2) 来衡量业绩.
主要成果:
- 所有测试的PRS都表现出在不同祖先群体中对POAG风险进行分层的能力,几率比率的增加有所不同.
- 然而,在所有三个PRS中,与欧洲祖先相比,非洲祖先群体的AUROC和R2的改善始终较低.
- 加拉哈尼PRS在加纳人和南非多祖先群体中显示出显著的风险分层,而汉PRS在非洲裔美国人和欧洲人中表现强.
结论:
- 现有的POAG PRS在非洲裔个体的风险分层中提供了一些实用性,但与欧洲祖先人群相比,它们的预测能力不够理想.
- 在AUROC和R2中观察到的差异突出了当前针对不同人群的一般化PRS的显著局限性.
- 开发新的,根据祖先量身定制的POAG风险预测模型对于改善青光眼治疗和代表性不足的群体的结果至关重要.
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