将多基因风险评分添加到常规病例查找中以识别未诊断的慢性阻塞性肺病
Jingzhou Zhang1,2,3, Brian D Hobbs3,4, Edwin K Silverman3,4
1The Pulmonary Center, Department of Medicine, Boston University Chobanian & Avedisian School of Medicine, Boston, Massachusetts.
JAMA
|January 22, 2025
概括
结合标准问卷,COPD多基因风险评分 (PRS) 可以更好地检测未被诊断的慢性阻塞性肺病 (COPD). 这种基因方法有助于识别更多未被诊断的COPD患者.
科学领域:
- 肺部医学
- 遗传学
- 流行病学
背景情况:
- 慢性阻塞性肺病 (COPD) 常常没有被诊断出来.
- 遗传倾向是已知的COPD风险因素,但其在早期检测中的作用尚未确立.
研究的目的:
- 评估COPD多基因风险评分 (PRS) 是否有助于识别未诊断的COPD.
- 将PRS的有效性与标准案例调查问卷 (mLFQ) 和传统风险因素进行比较.
主要方法:
- 对来自弗雷明汉心脏研究 (FHS) 和COPDGene研究的数据进行横截分析.
- 评估了没有先前COPD诊断的参与者 (≥35岁).
- 后勤模型评估了mLFQ得分和COPDPRS对螺旋测定COPD的预测性能.
主要成果:
- 在FHS队列中,将COPD PRS添加到mLFQ显著改善了螺旋计定义的COPD的预测 (AUC从0. 78增加到0. 84).
- 在COPDGene中,PRS还改善了非西班牙裔非洲裔美国人的预测 (AUC为0. 69至0. 72) 和非西班牙裔白人参与者 (AUC为0.
- 将PRS添加到mLFQ的结果使得FHS中未诊断的COPD病例在10%的精神测量转诊值下重新分类.
结论:
- 一个COPDPRS可以比传统的病例查找方法更好地识别未诊断的COPD.
- 这些发现表明,基因风险评分是改善一般人群中COPD病例检测的宝贵工具.
- 需要进一步研究PRS对COPD诊断和患者结果的临床影响.
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