• 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 ...
    • 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 ...