• 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 ...
    • The influence of obesity-related factors in the etiology of renal cell carcinoma-A mendelian randomization study 

      Johansson, Mattias; Carreras-Torres, Robert; Scelo, Ghislaine; Purdue, Mark P.; Mariosa, Daniela; Muller, David C.; Timpson, Nicholas J.; Haycock, Philip C.; Brown, Kevin M.; Wang, Zhaoming; Ye, Yuanqing; Hofmann, Jonathan N.; Foll, Matthieu; Gaborieau, Valerie; Machiela, Mitchell J.; Colli, Leandro M.; Li, Peng; Garnier, Jean-Guillaume; Blanche, Helene; Boland, Anne; Burdette, Laurie; Prokhortchouk, Egor; Skryabin, Konstantin G.; Yeager, Meredith; Radojevic-Skodric, Sanja; Ognjanovic, Simona; Foretova, Lenka; Holcatova, Ivana; Janout, Vladimir; Mates, Dana; Mukeriya, Anush; Rascu, Stefan; Zaridze, David; Bencko, Vladimir; Cybulski, Cezary; Fabianova, Eleonora; Jinga, Viorel; Lissowska, Jolanta; Lubinski, Jan; Navratilova, Marie; Rudnai, Peter; Benhamou, Simone; Cancel-Tassin, Geraldine; Cussenot, Olivier; Weiderpass, Elisabete; Ljungberg, Börje; Tumkur Sitaram, Raviprakash; Häggström, Christel; Bruinsma, Fiona; Jordan, Susan J.; Severi, Gianluca; Winship, Ingrid; Hveem, Kristian; Vatten, Lars Johan; Fletcher, Tony; Larsson, Susanna C.; Wolk, Alicja; Banks, Rosamonde E.; Selby, Peter J.; Easton, Douglas F.; Andreotti, Gabriella; Beane Freeman, Laura E.; Koutros, Stella; Männistö, Satu; Weinstein, Stephanie; Clark, Peter E.; Edwards, Todd L.; Lipworth, Loren; Gapstur, Susan M.; Stevens, Victoria L.; Carol, Hallie; Freedman, Matthew L.; Pomerantz, Mark M.; Cho, Eunyoung; Wilson, Kathryn M.; Gaziano, J. Michael; Sesso, Howard D.; Freedman, Neal D.; Parker, Alexander S.; Eckel-Passow, Jeanette E.; Huang, Wen-Yi; Kahnoski, Richard J.; Lane, Brian R.; Noyes, Sabrina L.; Petillo, David; Teh, Bin Tean; Peters, Ulrike; White, Emily; Anderson, Garnet L.; Johnson, Lisa; Luo, Juhua; Buring, Julie; Lee, I-Min; Chow, Wong-Ho; Moore, Lee E.; Eisen, Timothy; Henrion, Marc; Larkin, James; Barman, Poulami; Leibovich, Bradley C.; Choueiri, Toni K.; Lathrop, G. Mark; Deleuze, Jean-François; Gunter, Marc; McKay, James D.; Wu, Xifeng; Houlston, Richard S.; Chanock, Stephen J.; Relton, Caroline; Richards, J. Brent; Martin, Richard M.; Davey Smith, George; Brennan, Paul (Journal article; Tidsskriftartikkel; Peer reviewed, 2019-01-03)
      <i>Background</i> - Several obesity-related factors have been associated with renal cell carcinoma (RCC), but it is unclear which individual factors directly influence risk. We addressed this question using genetic markers as proxies for putative risk factors and evaluated their relation to RCC risk in a mendelian randomization (MR) framework. This methodology limits bias due to confounding and is ...
    • 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 ...
    • 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 ...