对心房的遗传风险预测
Steven A Lubitz1, Xiaoyan Yin2, Henry J Lin2
1From Cardiac Arrhythmia Service (S.A.L., P.T.E.), Cardiovascular Research Center (S.A.L., L.-C.W., S.K., P.T.E.), J. Philip Kistler Stroke Research Center, Department of Neurology (N.S.R., C.D.A., J.R.), and Center for Human Genetic Research (C.D.A., S.K., J.R.), Massachusetts General Hospital, Boston; Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge (S.A.L., C.D.A., L.-C.W., S.K., C.R., J.R., P.T.E.); Boston University and National Heart, Lung, and Blood Institute's Framingham Heart Study, MA (X.Y., M.G.L., K.L.L., E.J.B.); Department of Pediatrics (H.J.L., X.G., K.D.T., J.I.R.) and Institute for Translational Genomics and Population Sciences, Los Angeles Biomedical Research Institute (H.J.L., X.G., K.D.T., J.Y., J.I.R.), Harbor-UCLA Medical Center, Torrance, CA; Vanderbilt University, Nashville, TN (M.K., P.L.T., D.D.); Department of Cardiology, Clinical Sciences, Lund University, Sweden (J.G.S.); Skåne University Hospital, Lund, Sweden (J.G.S.); Departments of Cardiology (S.T., J.W.J.) and Gerontology and Geriatrics (S.T.), Leiden University Medical Center, the Netherlands; University of Groningen, University Medical Center Groningen, the Netherlands (M.R., B.G., N.V., J.E.S., P.v.d.H.); Department of Clinical Sciences, Lund University, Malmö, Sweden (P.A., G.E., O.M.); Cardiovascular Division, Department of Medicine, University of Minnesota Medical School, Minneapolis (L.Y.C.); Robertson Center for Biostatistics (I.F.) and Institute of Cardiovascular and Medical Sciences (P.W.M., D.J.S.), University of Glasgow, UK; Department of Neurology, Rhode Island Hospital, Alpert Medical School of Brown University, Providence (K.L.F.); Department of Mathematics and Statistics, Boston University, Boston, MA (M.G.L.); Department of Biostatistics (M.G.L., K.L.L.), Department of Epidemiology (E.J.B.), Section of Cardiovascular Medicine, Department of Medicine (E.J.B.), and Preventive Medicine Section, Department of Medicine (E.J.B.), Boston University School of Public Health, MA; Cardiovascular Health Research Unit, Departments of Medicine (B.M.P., N.S., S.R.H.), Epidemiology (B.M.P., N.S., S.R.H.), and Health Services (B.M.P.), University of Washington, Seattle; Kaiser Permanente Health Research Institute, Kaiser Permanente, Seattle, WA (B.M.P., S.R.H.); Epidemiological Cardiology Research Center (EPICARE), Wake Forest School of Medicine, Winston-Salem, NC (E.Z.S.); Department of Medicine and Molecular Physiology and Biophysics, Vanderbilt University School of Medicine, Nashville, TN (D.R.); University of Illinois, Chicago (D.D.); Interuniversity Cardiology Institute of the Netherlands, Utrecht (J.W.J.); Department of Internal Medicine, Skåne University Hospital, Malmö, Sweden (O.M.); and Department of Epidemiology, Rollins School of Public Health, Emory University, Atlanta, GA (A.A.). slubitz@mgh.harvard.edu.
基因风险评分有助于识别心房动 (AF) 和心血管栓塞性中风风险较高的人. 这些得分提供了比传统的临床因素更有价值的见解来预测AF发生率.
科学领域:
- 心血管遗传学
- 流行病学
- 基因组风险预测
背景情况:
- 前庭 (AF) 具有重要的遗传成分.
- 识别高风险的人对于预防心血管梗塞至关重要.
研究的目的:
- 评估基因风险得分是否可以根据患有肌肉功能的风险对个体进行分层.
- 调查AF遗传风险得分与发生的AF和缺血性中风之间的关联.
主要方法:
- 使用了5项前性研究 (18,919名欧洲血统) 的数据来检查AF遗传风险得分和事件AF.
- 在单独的队列中分析了AF遗传风险得分和缺血性中风之间的关联 (509例,3028名参考人).
- 使用基因风险评分,以11至719种先前与肌相关的常见变异为依据.
主要成果:
- 即使对临床风险因素进行调整,AF遗传风险得分也与新发的AF有显著的关联.
- 基因风险分数最高的四分位数与最低的四分位数相比,事件AF的综合危险比为1. 28至1. 67.
- 脑膜炎的遗传风险与心血管血栓性中风的增加有关,最高四分之一的127个变异得分增加了2. 49倍.
结论:
- 综合性AF遗传风险得分与发生的AF和心血管梗塞有关.
- 这些遗传分数提供了超出已确定的临床风险因素的额外预测价值,尽管在歧视方面有轻微的改进.
- 需要进一步的研究来探讨AF遗传风险在确定亚临床AF和区分中风机制方面的有用性.
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