James P Pirruccello, Shaan Khurshid, Honghuang Lin, Lu-Chen Weng, Siavash Zamirpour, Shinwan Kany, Avanthi Raghavan, Satoshi Koyama, Ramachandran S Vasan, Emelia J Benjamin, Mark E Lindsay, Patrick T Ellinor
{"title":"用于升主动脉扩张检测和风险分层的 AORTA 基因评分。","authors":"James P Pirruccello, Shaan Khurshid, Honghuang Lin, Lu-Chen Weng, Siavash Zamirpour, Shinwan Kany, Avanthi Raghavan, Satoshi Koyama, Ramachandran S Vasan, Emelia J Benjamin, Mark E Lindsay, Patrick T Ellinor","doi":"10.1093/eurheartj/ehae474","DOIUrl":null,"url":null,"abstract":"<p><strong>Background and aims: </strong>This study assessed whether a model incorporating clinical features and a polygenic score for ascending aortic diameter would improve diameter estimation and prediction of adverse thoracic aortic events over clinical features alone.</p><p><strong>Methods: </strong>Aortic diameter estimation models were built with a 1.1 million-variant polygenic score (AORTA Gene) and without it. Models were validated internally in 4394 UK Biobank participants and externally in 5469 individuals from Mass General Brigham (MGB) Biobank, 1298 from the Framingham Heart Study (FHS), and 610 from All of Us. Model fit for adverse thoracic aortic events was compared in 401 453 UK Biobank and 164 789 All of Us participants.</p><p><strong>Results: </strong>AORTA Gene explained more of the variance in thoracic aortic diameter compared to clinical factors alone: 39.5% (95% confidence interval 37.3%-41.8%) vs. 29.3% (27.0%-31.5%) in UK Biobank, 36.5% (34.4%-38.5%) vs. 32.5% (30.4%-34.5%) in MGB, 41.8% (37.7%-45.9%) vs. 33.0% (28.9%-37.2%) in FHS, and 34.9% (28.8%-41.0%) vs. 28.9% (22.9%-35.0%) in All of Us. AORTA Gene had a greater area under the receiver operating characteristic curve for identifying diameter ≥ 4 cm: 0.836 vs. 0.776 (P < .0001) in UK Biobank, 0.808 vs. 0.767 in MGB (P < .0001), 0.856 vs. 0.818 in FHS (P < .0001), and 0.827 vs. 0.791 (P = .0078) in All of Us. AORTA Gene was more informative for adverse thoracic aortic events in UK Biobank (P = .0042) and All of Us (P = .049).</p><p><strong>Conclusions: </strong>A comprehensive model incorporating polygenic information and clinical risk factors explained 34.9%-41.8% of the variation in ascending aortic diameter, improving the identification of ascending aortic dilation and adverse thoracic aortic events compared to clinical risk factors.</p>","PeriodicalId":11976,"journal":{"name":"European Heart Journal","volume":" ","pages":"4318-4332"},"PeriodicalIF":37.6000,"publicationDate":"2024-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11491154/pdf/","citationCount":"0","resultStr":"{\"title\":\"The AORTA Gene score for detection and risk stratification of ascending aortic dilation.\",\"authors\":\"James P Pirruccello, Shaan Khurshid, Honghuang Lin, Lu-Chen Weng, Siavash Zamirpour, Shinwan Kany, Avanthi Raghavan, Satoshi Koyama, Ramachandran S Vasan, Emelia J Benjamin, Mark E Lindsay, Patrick T Ellinor\",\"doi\":\"10.1093/eurheartj/ehae474\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background and aims: </strong>This study assessed whether a model incorporating clinical features and a polygenic score for ascending aortic diameter would improve diameter estimation and prediction of adverse thoracic aortic events over clinical features alone.</p><p><strong>Methods: </strong>Aortic diameter estimation models were built with a 1.1 million-variant polygenic score (AORTA Gene) and without it. Models were validated internally in 4394 UK Biobank participants and externally in 5469 individuals from Mass General Brigham (MGB) Biobank, 1298 from the Framingham Heart Study (FHS), and 610 from All of Us. Model fit for adverse thoracic aortic events was compared in 401 453 UK Biobank and 164 789 All of Us participants.</p><p><strong>Results: </strong>AORTA Gene explained more of the variance in thoracic aortic diameter compared to clinical factors alone: 39.5% (95% confidence interval 37.3%-41.8%) vs. 29.3% (27.0%-31.5%) in UK Biobank, 36.5% (34.4%-38.5%) vs. 32.5% (30.4%-34.5%) in MGB, 41.8% (37.7%-45.9%) vs. 33.0% (28.9%-37.2%) in FHS, and 34.9% (28.8%-41.0%) vs. 28.9% (22.9%-35.0%) in All of Us. AORTA Gene had a greater area under the receiver operating characteristic curve for identifying diameter ≥ 4 cm: 0.836 vs. 0.776 (P < .0001) in UK Biobank, 0.808 vs. 0.767 in MGB (P < .0001), 0.856 vs. 0.818 in FHS (P < .0001), and 0.827 vs. 0.791 (P = .0078) in All of Us. AORTA Gene was more informative for adverse thoracic aortic events in UK Biobank (P = .0042) and All of Us (P = .049).</p><p><strong>Conclusions: </strong>A comprehensive model incorporating polygenic information and clinical risk factors explained 34.9%-41.8% of the variation in ascending aortic diameter, improving the identification of ascending aortic dilation and adverse thoracic aortic events compared to clinical risk factors.</p>\",\"PeriodicalId\":11976,\"journal\":{\"name\":\"European Heart Journal\",\"volume\":\" \",\"pages\":\"4318-4332\"},\"PeriodicalIF\":37.6000,\"publicationDate\":\"2024-10-21\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11491154/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"European Heart Journal\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1093/eurheartj/ehae474\",\"RegionNum\":1,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"CARDIAC & CARDIOVASCULAR SYSTEMS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"European Heart Journal","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1093/eurheartj/ehae474","RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"CARDIAC & CARDIOVASCULAR SYSTEMS","Score":null,"Total":0}
引用次数: 0
摘要
背景和目的：本研究评估了一个包含临床特征和升主动脉直径多基因评分的模型是否会比仅有临床特征的模型更好地估计主动脉直径和预测胸主动脉不良事件：建立了包含 110 万个变异多基因评分（AORTA 基因）和不包含该评分的主动脉直径估算模型。模型在 4394 名英国生物库参与者中进行了内部验证，在来自 Mass General Brigham (MGB) 生物库的 5469 人、来自 Framingham 心脏研究 (FHS) 的 1298 人和来自 All of Us 的 610 人中进行了外部验证。比较了 401 453 名英国生物库参与者和 164 789 名美国所有人参与者的胸主动脉不良事件模型拟合情况：结果：与单纯的临床因素相比，AORTA 基因能解释更多的胸主动脉直径变异：英国生物库为 39.5%（95% 置信区间为 37.3%-41.8%），美国所有参与者为 29.3%（27.0%-31.5%），MGB 为 36.5%（34.4%-38.5%）对 32.5%（30.4%-34.5%），FHS 为 41.8%（37.7%-45.9%）对 33.0%（28.9%-37.2%），All of Us 为 34.9%（28.8%-41.0%）对 28.9%（22.9%-35.0%）。AORTA 基因在识别直径≥ 4 厘米时的接收者操作特征曲线下面积更大：英国生物库为 0.836 vs. 0.776 (P < .0001)，MGB 为 0.808 vs. 0.767 (P < .0001)，FHS 为 0.856 vs. 0.818 (P < .0001)，All of Us 为 0.827 vs. 0.791 (P = .0078)。在英国生物库（UK Biobank）（P = .0042）和 "我们所有人"（All of Us）（P = .049）中，AORTA 基因对胸主动脉不良事件更有参考价值：结论：与临床风险因素相比，包含多基因信息和临床风险因素的综合模型可解释升主动脉直径34.9%-41.8%的变化，提高了升主动脉扩张和不良胸主动脉事件的识别率。
The AORTA Gene score for detection and risk stratification of ascending aortic dilation.
Background and aims: This study assessed whether a model incorporating clinical features and a polygenic score for ascending aortic diameter would improve diameter estimation and prediction of adverse thoracic aortic events over clinical features alone.
Methods: Aortic diameter estimation models were built with a 1.1 million-variant polygenic score (AORTA Gene) and without it. Models were validated internally in 4394 UK Biobank participants and externally in 5469 individuals from Mass General Brigham (MGB) Biobank, 1298 from the Framingham Heart Study (FHS), and 610 from All of Us. Model fit for adverse thoracic aortic events was compared in 401 453 UK Biobank and 164 789 All of Us participants.
Results: AORTA Gene explained more of the variance in thoracic aortic diameter compared to clinical factors alone: 39.5% (95% confidence interval 37.3%-41.8%) vs. 29.3% (27.0%-31.5%) in UK Biobank, 36.5% (34.4%-38.5%) vs. 32.5% (30.4%-34.5%) in MGB, 41.8% (37.7%-45.9%) vs. 33.0% (28.9%-37.2%) in FHS, and 34.9% (28.8%-41.0%) vs. 28.9% (22.9%-35.0%) in All of Us. AORTA Gene had a greater area under the receiver operating characteristic curve for identifying diameter ≥ 4 cm: 0.836 vs. 0.776 (P < .0001) in UK Biobank, 0.808 vs. 0.767 in MGB (P < .0001), 0.856 vs. 0.818 in FHS (P < .0001), and 0.827 vs. 0.791 (P = .0078) in All of Us. AORTA Gene was more informative for adverse thoracic aortic events in UK Biobank (P = .0042) and All of Us (P = .049).
Conclusions: A comprehensive model incorporating polygenic information and clinical risk factors explained 34.9%-41.8% of the variation in ascending aortic diameter, improving the identification of ascending aortic dilation and adverse thoracic aortic events compared to clinical risk factors.
期刊介绍：
The European Heart Journal is a renowned international journal that focuses on cardiovascular medicine. It is published weekly and is the official journal of the European Society of Cardiology. This peer-reviewed journal is committed to publishing high-quality clinical and scientific material pertaining to all aspects of cardiovascular medicine. It covers a diverse range of topics including research findings, technical evaluations, and reviews. Moreover, the journal serves as a platform for the exchange of information and discussions on various aspects of cardiovascular medicine, including educational matters.
In addition to original papers on cardiovascular medicine and surgery, the European Heart Journal also presents reviews, clinical perspectives, ESC Guidelines, and editorial articles that highlight recent advancements in cardiology. Additionally, the journal actively encourages readers to share their thoughts and opinions through correspondence.
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