多基因风险评分可以识别喘和慢性阻塞性肺病的异质性
Matthew Moll1, Joanne E Sordillo2, Auyon J Ghosh3
1Department of Medicine, Channing Division of Network Medicine, Division of Pulmonary and Critical Care Medicine, Harvard Medical School, Boston, Mass; Harvard Medical School, Brigham and Women's Hospital, Boston, Mass.
The Journal of allergy and clinical immunology
|August 18, 2023
概括
喘和精神检测的多基因风险得分与喘-COPD重叠和恶化有关. 研究和电子健康记录队伍之间的表现不同,突出了呼吸系统疾病遗传预测的差异.
科学领域:
- 肺部医学 肺部医学
- 遗传学 遗传学 是一个
- 流行病学 流行病学
背景情况:
- 喘和COPD具有共同的遗传和临床特征.
- 了解这些重叠对于准确的诊断和治疗至关重要.
- 多基因风险评分 (PRS) 提供了一个探索遗传基础的工具.
研究的目的:
- 为了调查是否PRS用于喘 (PRS_喘) 和螺旋计 (PRS_spiro) 区分与喘,COPD和喘-COPD重叠 (ACO) 的关联.
- 评估这些PRS在不同研究群体中的预测性能.
主要方法:
- 开发并验证了两种PRS_Asthma,选择了表现最好的人.
- 应用PRS_Asthma和已发表的PRS_spiro到研究和电子健康记录 (EHR) 队列中.
- 利用元分析和队列特定分析来评估PRS与喘,COPD,ACO以及恶化症的关联,并对混因素和祖先进行调整.
主要成果:
- 在分析中,PRS_Asthma和PRS_spiro都预测了喘.
- PRS_spiro预测了COPD,但这种关联因队列而异.
- 在COPD遗传流行病学研究中,这两种PRS都与ACO有关.
- PRS_Asthma和PRS_spiro在特定子组和EHR队列中预测了喘恶化.
结论:
- 喘和螺旋计的PRS与ACO和喘恶化有关.
- 研究和基于EHR的队列之间,遗传预测的准确性有所不同.
- 这些发现有助于理解复杂的呼吸道疾病的遗传结构.
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