全现象关联研究确定了与金黄色葡萄球菌感染相关的新临床表型
Patrick Allaire1, Noha S Elsayed1, Richard L Berg2
1Center for Precision Medicine Research, Marshfield Clinic Research Institute, Marshfield, Wisconsin, United States of America.
PloS one
|July 5, 2024
概括
现象广泛关联研究 (PheWAS) 确定了新型风险因素和黄金葡萄球菌感染 (SAI) 的并发症. 这项研究引入了一种两阶段的PheWAS方法,用于发现疾病与疾病之间的相互作用.
科学领域:
- 遗传学和基因组学 遗传学和基因组学
- 流行病学 流行病学
- 临床信息学 临床信息学
背景情况:
- 现象广泛关联研究 (PheWAS) 系统地选医疗记录以寻找表型关联.
- 之前没有对与黄金葡萄球菌感染 (SAI) 相关的表型进行系统查.
- 潜在的新风险因素和SAI的并发症仍然未被发现.
研究的目的:
- 使用量身定制的两阶段PheWAS方法,识别与金黄色葡萄球菌感染 (SAI) 相关的新型表型.
- 发现SAI的新风险因素和并发症.
- 在独立的患者队列中验证新的关联.
主要方法:
- 开发了一种两阶段的PheWAS选程序.
- 第一阶段涉及查SAI与其他表型的同时发生.
- 第二阶段检查了发病年龄的相关性;分析使用了马什菲尔德诊所卫生系统数据 (754,401名患者) 和TriNetX (109,884,571名患者) 和All of Us (118,538名患者) 队列中的验证结果.
主要成果:
- 41种表型符合显著性标准 (p值<3.64e-5,或>5).
- 23个关联被归类为SAI的风险因素或并发症.
- 发现了三个新的关联:长期使用阿司匹林 (风险),缺铁性贫血和慢性疾病 (并发症) 的贫血,在验证队列中复制.
结论:
- 高等教育机构的PheWAS增强了对相互作用的表型的理解.
- 新的两阶段PheWAS方法可应用于其他疾病相互作用研究.
- 这些发现需要进一步调查,因为可能存在观察数据偏差.
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