{"title":"The Impact of Genetic and Acquired Risk Factors on Thromboembolic Events: A Retrospective Study.","authors":"Luca Rapino, Ana-Luisa Stefanski, Thomas Dörner","doi":"10.1055/a-2614-8526","DOIUrl":null,"url":null,"abstract":"<p><p>This study, involving a cohort of 980 patients with arterial and/or venous events, evaluated the relative importance of genetic and traditional risk factors using a machine learning model approach. The analysis revealed that conventional risk factors-such as age, gender, tobacco use, obesity-and acquired thrombophilia (most prominently antiphospholipid syndrome [APS]) outperformed any genetic risk variants analyzed. Of note, the presence of heterozygous FVL mutations was associated with a reduced arterial risk, whereas carriers of heterozygous factor VII activation protease (FSAP) mutations had a lower risk of venous events.Thus, by employing diverse statistical approaches, the study showed that acquired risk factors exert the most substantial impact on the development of thrombotic events, except for the well-known role of FVL mutations in venous events.</p>","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":" ","pages":""},"PeriodicalIF":2.7000,"publicationDate":"2025-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Hamostaseologie","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1055/a-2614-8526","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"HEMATOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
This study, involving a cohort of 980 patients with arterial and/or venous events, evaluated the relative importance of genetic and traditional risk factors using a machine learning model approach. The analysis revealed that conventional risk factors-such as age, gender, tobacco use, obesity-and acquired thrombophilia (most prominently antiphospholipid syndrome [APS]) outperformed any genetic risk variants analyzed. Of note, the presence of heterozygous FVL mutations was associated with a reduced arterial risk, whereas carriers of heterozygous factor VII activation protease (FSAP) mutations had a lower risk of venous events.Thus, by employing diverse statistical approaches, the study showed that acquired risk factors exert the most substantial impact on the development of thrombotic events, except for the well-known role of FVL mutations in venous events.
期刊介绍:
Hämostaseologie is an interdisciplinary specialist journal on the complex topics of haemorrhages and thromboembolism and is aimed not only at haematologists, but also at a wide range of specialists from clinic and practice. The readership consequently includes both specialists for internal medicine as well as for surgical diseases.