主要开放角度眼多原风险评分和疾病发病风险:随机临床试验的后期分析
Sayuri Sekimitsu1,2, Nabil Ghazal1, Kanza Aziz2
1Tufts University School of Medicine, Boston, Massachusetts.
JAMA ophthalmology
|November 7, 2024
概括
多基因风险评分 (PRS) 可以确定患初级开角青光眼 (POAG) 风险较低的个体. 较低的PRS与20年的疾病转化减少有关,特别是在高危人群中.
科学领域:
- 眼科医生 眼科 眼科
- 遗传学 遗传学 是一个
- 公共卫生 公共卫生
背景情况:
- 初级开角青光眼 (POAG) 是一种遗传性疾病.
- 多基因风险评分 (PRS) 提供了一个潜在的工具来分层疾病风险.
研究的目的:
- 评估POAG PRS在识别具有POAG发展风险较低的眼睛高血压患者中的有效性.
- 分析基于PRS值和临床风险因素的20年转换率.
主要方法:
- 眼睛高血压治疗研究 (OHTS) 的后期分析,涉及1010名参与者,具有可用的遗传数据.
- 混合效应物流回归调整为OHTS风险因素和随机化状态.
- 根据基线OHTS临床风险分层,以评估PRS影响.
主要成果:
- 在48百分位以下的PRS与在20年内保持无疾病的可能性显著增加 (P=.03).
- 20年转换率的最大差异在临床风险最高的三位数中观察到,较低的PRS显著降低了转换率 (23.8%vs61.1%,P=.01).
- 早期治疗在临床风险最高的群体中部分减轻了高遗传风险,但对低遗传风险的人来说,其益处有限.
结论:
- 一个POAG PRS值是一个有价值的工具,用于识别患病风险较低的个体.
- 临床风险分层结合PRS可以改进POAG的风险预测.
- 早期干预对具有低遗传倾向的个体可能不那么有效,即使临床风险高.
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