系统地复制吸烟疾病的关联,使用调查答案和电子健康记录数据在我们所有人的研究计划中
David J Schlueter1,2, Lina Sulieman3, Huan Mo1,4
1Precision Health Informatics Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.
Journal of the American Medical Informatics Association : JAMIA
|October 27, 2023
概括
我们所有人研究计划成功地复制了吸烟与各种健康现象之间的已知关联. 电子健康记录和参与者提供的数据都证实了这些与吸烟有关的健康结果,证明了该计划的实用性.
科学领域:
- 基因组学和精准医学精准医学
- 流行病学 流行病学
- 生物信息学是一种生物信息学.
背景情况:
- 我们所有人的研究计划旨在通过收集100多万参与者的数据来推进精准医学.
- 验证生物库需要复制已知的关联来建立数据完整性.
- 了解像吸烟这样的常见暴露的影响对于精准医学至关重要.
研究的目的:
- 评估"我们所有人"研究计划数据能够在多大程度上复制吸烟与健康现象之间的已知关联.
- 评估我们所有人研究计划数据对研究常见暴露的有效性.
主要方法:
- 使用电子健康记录 (EHR) 定义的吸烟暴露与国际疾病分类代码,以及参与者提供的关于生活方式调查的吸烟和当前吸烟的信息 (PPI).
- 对每个吸烟暴露的定义进行了全现象关联研究 (PheWAS).
- 我们将PheWAS的效果大小与PubMed发布的元分析进行了比较,将复制定义为名义 (方向一致) 或完全 (置信区间重叠).
主要成果:
- 对于EHR吸烟 (736),PPI永远吸烟 (492) 和PPI当前吸烟 (639) 确定了全现象显著的关联.
- 在代表99个不同的表型的165个元分析中,74个在名义上复制,55个在P < .05.05时完全复制.
- 在邦费罗尼值 (P < 2.68 × 10-5),58个关联被名义上复制,40个完全复制.
结论:
- 在元分析中,大多数以前与吸烟相关的表型在"我们所有人"数据集中被名义上复制.
- 无论是EHR和PPI吸烟暴露定义都产生了可比的结果,表明数据一致性.
- 该研究证实了利用我们所有人的数据来调查常见暴露及其相关健康结果的可行性.
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