一个可计算的电子健康记录ARDS分类器和MUC5B促进分子多态和严重病情成年人ARDS之间的关联
V Eric Kerchberger1, J Brennan McNeil1, Neil Zheng1
1Department of Medicine (V. E. K., J. B. M., J. A. B., Q. F., L. B. W.), the Department of Biomedical Informatics (V. E. K., N. Z., W.-Q. W.), Vanderbilt University Medical Center; the Department of Cell and Developmental Biology (J. A. B.), the Department of Pathology, Microbiology and Immunology (J. A. B., L. B. W.), Vanderbilt University, Nashville; Quillen College of Medicine (J. B. M.), East Tennessee State University, Johnson City, TN; Brigham and Women's Hospital (N. Z.), Boston, MA; Genentech, Inc. (D. C., C. M. R.), South San Francisco; and the Department of Medicine (A. J. R.), Stanford University, Palo Alto, CA.
一个新的算法准确地识别电子健康记录 (EHR) 中的ARDS,使遗传风险因子发现成为可能. 在大型生物库研究中,MUC5B基因多态性与ARDS风险有关.
科学领域:
- 遗传学 是一个遗传学.
- 生物信息学是一种生物信息学.
- 肺部医学 肺部医学
背景情况:
- 连接到电子健康记录 (EHR) 的大型DNA生物库为识别急性呼吸困扰综合征 (ARDS) 的遗传驱动因素提供了机会.
- 在大规模的遗传研究中,开发准确的方法来识别EHR数据中的ARDS至关重要.
研究的目的:
- 开发和验证计算机算法,用于识别EHR数据中的ARDS.
- 使用EHR数据调查MUC5B促进体多态 (rs35705950) 和ARDS之间的关联.
- 探索ARDS风险中的潜在年龄基因相互作用.
主要方法:
- 使用诊断计费代码,实验室结果和胸部X光学报告开发了一个分类算法,以识别EHR-ARDS.
- 算法性能与研究人员判断的ARDS相对验证,使用灵敏度,特异性,PPV,NPV和Cohen κ.
- 在两个队列中评估了EHR-ARDS和MUC5B rs35705950多态的关联:VALID和BioVU.
主要成果:
- 在两个队列中,EHR-ARDS分类器与研究人员判断的ARDS显示了中等至高的一致性.
- 在BioVU队列中,MUC5B rs35705950多态与EHR-ARDS显著相关 (OR,1.20;P = .043).
- 在VALID队列中观察到一个年龄基因相互作用,rs35705950增加了老年患者的EHR-ARDS风险.
结论:
- 在高危成年人中,MUC5B促进体多态性与EHR-ARDS有关.
- 结合经过验证的算法,EHR生物库可以促进ARDS的精密医学研究.
- 研究结果表明ARDS的潜在年龄相关遗传风险因素.
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