• An artificial neural network approach integrating plasma proteomics and genetic data identifies PLXNA4 as a new susceptibility locus for pulmonary embolism 

      Razzaq, Misbah; Iglesias, Maria Jesus; Ibrahim-Kosta, Manal; Goumidi, Louisa; Soukarieh, Omar; Proust, Carole; Roux, Maguelonne; Suchon, Pierre; Boland, Anne; Daiain, Delphine; Olaso, Robert; Havervall, Sebastian; Thalin, Charlotte; Butler, Lynn; Deleuze, Jean-François; Odeberg, Jacob; Morange, Pierre-Emmanuel; Trégouët, David-Alexandre (Journal article; Tidsskriftartikkel; Peer reviewed, 2021-07-07)
      Venous thromboembolism is the third common cardiovascular disease and is composed of two entities, deep vein thrombosis (DVT) and its potential fatal form, pulmonary embolism (PE). While PE is observed in~ 40% of patients with documented DVT, there is limited biomarkers that can help identifying patients at high PE risk. To fll this need, we implemented a two hidden-layers artifcial neural ...
    • Cross-Ancestry Investigation of Venous Thromboembolism Genomic Predictors 

      Thibord, Florian; Klarin, Derek; Brody, Jennifer A.; Chen, Ming-Huei; Levin, Michael G.; Chasman, Daniel I.; Goode, Ellen L.; Hveem, Kristian; Teder-Laving, Maris; Martinez-Perez, Angel; Aïssi, Dylan; Daian-Bacq, Delphine; Ito, Kaoru; Natarajan, Pradeep; Lutsey, Pamela L.; Nadkarni, Girish N.; de Vries, Paul S.; Cuellar-Partida, Gabriel; Wolford, Brooke N.; Pattee, Jack W.; Kooperberg, Charles; Brækkan, Sigrid Kufaas; Li-Gao, Ruifang; Saut, Noemie; Sept, Corriene; Germain, Marine; Judy, Renae L.; Wiggins, Kerri L.; Ko, Darae; O'Donnell, Christopher J.; Taylor, Kent D.; Giulianini, Franco; De Andrade, Mariza; Nøst, Therese Haugdahl; Boland, Anne; Empana, Jean-Philippe; Koyama, Satoshi; Gilliland, Thomas; Do, Ron; Huffman, Jennifer E.; Wang, Xin; Zhou, Wei; Manuel Soria, Jose; Carlos Souto, Juan; Pankratz, Nathan; Haessler, Jeffery; Hindberg, Kristian Dalsbø; Rosendaal, Frits R; Turman, Constance; Olaso, Robert; Kember, Rachel L.; Bartz, Traci M.; Lynch, Julie A.; Heckbert, Susan R.; Armasu, Sebastian M.; Brumpton, Ben Michael; Smadja, David M.; Jouven, Xavier; Komuro, Issei; Clapham, Katharine R.; Loos, Ruth J F; Willer, Cristen J.; Sabater-Lleal, Maria; Pankow, James S.; Reiner, Alexander P.; Morelli, Vania Maris; Ridker, Paul M.; Vlieg, Astrid van Hylckama; Deleuze, Jean-François; Kraft, Peter; Rader, Daniel J.; Psaty, Bruce M.; Skogholt, Anne Heidi; Emmerich, Joseph; Suchon, Pierre; Rich, Stephen S.; Vy, Ha My T; Tang, Weihong; Jackson, Rebecca D.; Hansen, John Bjarne; Morange, Pierre-Emmanuel; Kabrhel, Christopher; Trégouët, David-Alexandre; Damrauer, Scott M.; Johnson, Andrew D.; Smith, Nicholas L. (Journal article; Tidsskriftartikkel, 2022)
      <p><i>Background:</i> Venous thromboembolism (VTE) is a life-threatening vascular event with environmental and genetic determinants. Recent VTE genome-wide association studies (GWAS) meta-analyses involved nearly 30 000 VTE cases and identified up to 40 genetic loci associated with VTE risk, including loci not previously suspected to play a role in hemostasis. The aim of our research was to expand ...
    • Elevated plasma complement factor H related 5 protein is associated with venous thromboembolism 

      Iglesias, Maria Jesus; Sanchez-Rivera, Laura; Ibrahim-Kosta, Manal; Naudin, Clément; Munsch, Gaëlle; Goumidi, Louisa; Farm, Maria; Smith, Philip M.; Thibord, Florian; Kral-Pointner, Julia Barbara; Hong, Mun-Gwan; Suchon, Pierre; Germain, Marine; Schottmaier, Waltraud; Dusart, Philip James; Boland, Anne; Kotol, David; Edfors, Fredrik; Koprulu, Mine; Pietzner, Maik; Langenberg, Claudia; Damrauer, Scott M.; Johnson, Andrew D.; Klarin, Derek M.; Smith, Nicholas L.; Smadja, David M.; Holmström, Margareta; Magnusson, Maria; Silveira, Angela; Uhlén, Mathias; Renné, Thomas; Martinez-Perez, Angel; Emmerich, Joseph; Deleuze, Jean-Francois; Antovic, Jovan; Soria Fernandez, Jose Manuel; Assinger, Alice; Schwenk, Jochen M.; Souto Andres, Joan Carles; Morange, Pierre-Emmanuel; Butler, Lynn; Trégouët, David-Alexandre; Odeberg, Jacob (Journal article; Tidsskriftartikkel; Peer reviewed, 2023-06-07)
      Venous thromboembolism (VTE) is a common, multi-causal disease with potentially serious short- and long-term complications. In clinical practice, there is a need for improved plasma biomarker-based tools for VTE diagnosis and risk prediction. Here we show, using proteomics profiling to screen plasma from patients with suspected acute VTE, and several case-control studies for VTE, how Complement ...
    • Genetically predicted cortisol levels and risk of venous thromboembolism 

      Allarai, Elias; Lee, Wei-Hsuan; Burgess, Stephen; Larsson, Susanna C.; Lindstrom, Sara; Wang, Lu; Smith, Erin N.; Gordon, William; Van Hylckama Vlieg, Astrid; De Andrade, Mariza; Brody, Jennifer A.; Pattee, Jack W.; Haessler, Jeffrey; Brumpton, Ben Michael; Chasman, Daniel I.; Suchon, Pierre; Chen, Ming-Huei; Turman, Constance; Germain, Marine; Wiggins, Kerri L.; Macdonald, James; Brækkan, Sigrid Kufaas; Armasu, Sebastian M.; Pankratz, Nathan; Jackson, Rabecca D.; Nielsen, Jonas B; Giulianini, Franco; Puurunen, Marja K.; Ibrahim, Manal; Heckbert, Susan R.; Bammler, Theo K.; Frazer, Kelly A.; Mccauley, Bryan M.; Taylor, Kent; Pankow, James S.; Reiner, Alexander P.; Gabrielsen, Maiken Elvestad; Deleuze, Jean-Francois; O'Donnell, Chris J.; Kim, Jihye; Mcknight, Barbara; Kraft, Peter; Hansen, John Bjarne; Rosendaal, Frits Richard; Heit, John A.; Psaty, Bruce M.; Tang, Weihong; Kooperberg, Charles; Hveem, Kristian; Ridker, Paul M.; Morange, Pierre-Emmanuel; Johnson, Andrew D.; Kabrhel, Christopher; Alexandretrégouët, David; Smith, Nicholas L. (Journal article; Tidsskriftartikkel; Peer reviewed, 2022-08-19)
      Introduction - In observational studies, venous thromboembolism (VTE) has been associated with Cushing’s syndrome and with persistent mental stress, two conditions associated with higher cortisol levels. However, it remains unknown whether high cortisol levels within the usual range are causally associated with VTE risk. We aimed to assess the association between plasma cortisol levels and VTE risk ...
    • A large-scale exome array analysis of venous thromboembolism 

      Lindström, Sara; Brody, Jennifer A.; Turman, Constance; Germain, Marine; Bartz, Traci M.; Smith, Erin N.; Chen, Ming-Huei; Puurunen, Marja; Chasman, Daniel; Hassler, Jeffrey; Pankratz, Nathan; Basu, Saonli; Guan, Weihua; György, Beata; Ibrahim, Manal; Empana, Jean-Philippe; Olaso, Robert; Jackson, Rebecca; Brækkan, Sigrid Kufaas; McKnight, Barbara; Deleuze, Jean-François; O'Donnell, Christopher J.; Jouven, Xavier; Frazer, Kelly A.; Psaty, Bruce M.; Wiggins, Kerri L.; Taylor, Kent; Reiner, Alexander P.; Heckbert, Susan R.; Kooperberg, Charles; Ridker, Paul; Hansen, John-Bjarne; Tang, Weihong; Johnson, Andrew D.; Morange, Pierre-Emmanuel; Trégouët, David A.; Kraft, Peter; Smith, Nicholas L.; Kabrhel, Christopher (Journal article; Tidsskriftartikkel; Peer reviewed, 2019-01-19)
      Although recent Genome‐Wide Association Studies have identified novel associations for common variants, there has been no comprehensive exome‐wide search for low‐frequency variants that affect the risk of venous thromboembolism (VTE). We conducted a meta‐analysis of 11 studies comprising 8,332 cases and 16,087 controls of European ancestry and 382 cases and 1,476 controls of African American ancestry ...
    • Management of bleeding risk in patients who receive anticoagulant therapy for venous thromboembolism: Communication from the ISTH SSC Subcommittee on Predictive and Diagnostic Variables in Thrombotic Disease 

      den Exter, Paul L.; Woller, Scott C.; Robert-Ebadi, Helia; Masias, Camila; Morange, Pierre-Emmanuel; Castelli, David; Hansen, John Bjarne; Geersing, Geert-Jan; Siegal, Deborah M.; de Wit, Kerstin; Klok, Frederikus A. (Journal article; Tidsskriftartikkel; Peer reviewed, 2022-07-20)
      Patients with acute venous thromboembolism (VTE) require anticoagulant therapy to prevent recurrent VTE and death, which exposes them to an inherent increased risk of bleeding. Identification of patients at high risk of bleeding, and mitigating this risk, is an essential component of the immediate and long-term therapeutic management of VTE. The bleeding risk can be estimated by either implicit ...
    • A systematic review of biomarkers among hospitalized patients with COVID-19 predictive of venous thromboembolism: A communication from the Predictive and Diagnostic Variables Scientific and Standardization Committee of the ISTH 

      Woller, Scott C.; de Wit, Kerstin; Robert-Ebadi, Helia; Masias, Camila; Klok, Frederikus A.; den Exter, Paul L.; Morange, Pierre-Emmanuel; Castelli, David; Hansen, John Bjarne (Journal article; Tidsskriftartikkel; Peer reviewed, 2022-08-26)
      <p><b> Background</b> Thrombosis is reported to occur more often among patients with COVID-19 than otherwise expected in the setting of viral pneumonia and sepsis. Systemic inflammatory biomarkers may be associated with venous thromboembolism (VTE) risk. The ISTH subcommittee on Predictive and Diagnostic Variables in Thrombotic Disease aimed to report the evidence on prognostic biomarkers for VTE ...
    • Testing for association with rare variants in the coding and non-coding genome: RAVA-FIRST, a new approach based on CADD deleteriousness score 

      Bocher, Ozvan; Ludwig, Thomas E.; Oglobinsky, Marie-Sophie; Marenne, Gaëlle; Deleuze, Jean-François; Suryakant, Suryakant; Odeberg, Jacob; Morange, Pierre-Emmanuel; Trégouët, David-Alexandre; Perdry, Hervé; Génin, Emmanuelle (Journal article; Tidsskriftartikkel; Peer reviewed, 2022-09-16)
      Rare variant association tests (RVAT) have been developed to study the contribution of rare variants widely accessible through high-throughput sequencing technologies. RVAT require to aggregate rare variants in testing units and to filter variants to retain only the most likely causal ones. In the exome, genes are natural testing units and variants are usually filtered based on their functional ...