• 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 ...
    • Genome-wide association study identifies multiple risk loci for renal cell carcinoma 

      Scelo, Ghislaine; Purdue, Mark P.; Brown, Kevin M.; Johansson, Mattias; Wang, Zhaoming; Eckel-Passow, Jeanette E.; Ye, Yuanqing; Hofmann, Jonathan N.; Choi, Jiyeon; Foll, Matthieu; Gaborieau, Valerie; Machiela, Mitchell J.; Colli, Leandro M.; Li, Peng; Sampson, Joshua N.; Abedi-Ardekani, Behnoush; Besse, Celine; Blanche, Helene; Boland, Anne; Burdette, Laurie; Chabrier, Amelie; Durand, Geoffroy; Le Calvez-Kelm, Florence; Prokhortchouk, Egor; Robinot, Nivonirina; Skryabin, Konstantin G.; Wozniak, Magdalena B.; Yeager, Meredith; Basta-Jovanovic, Gordana; Dzamic, Zoran; 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; Szeszenia-Dabrowska, Neonila; Benhamou, Simone; Cancel-Tassin, Geraldine; Cussenot, Olivier; Baglietto, Laura; Boeing, Heiner; Khaw, Kay-Tee; Weiderpass, Elisabete; Ljungberg, Börje; Sitaram, Raviprakash T.; Bruinsma, Fiona; Jordan, Susan J.; Severi, Gianluca; Winship, Ingrid; Hveem, Kristian; Vatten, Lars Johan; Fletcher, Tony; Koppova, Kvetoslava; Larsson, Susanna C.; Wolk, Alicja; Banks, Rosamonde E.; Selby, Peter J.; Easton, Douglas F.; Pharoah, Paul; Andreotti, Gabriella; Freeman, Laura E Beane; Koutros, Stella; Albanes, Demetrius; 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; Kraft, Peter; Preston, Mark A.; Wilson, Kathryn M.; Gaziano, J. Michael; Sesso, Howard D.; Black, Amanda; Freedman, Neal D.; Huang, Wen-Yi; Anema, John G.; 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.; Wood, Christopher; Eisen, Timothy; Henrion, Marc; Larkin, James; Barman, Poulami; Leibovich, Bradley C.; Choueiri, Toni K.; Lathrop, G. Mark; Rothman, Nathaniel; Deleuze, Jean-Francois; McKay, James D.; Parker, Alexander S.; Wu, Xifeng; Houlston, Richard S.; Brennan, Paul; Chanock, Stephen J. (Journal article; Tidsskriftartikkel; Peer reviewed, 2017-06-09)
      Previous genome-wide association studies (GWAS) have identified six risk loci for renal cell carcinoma (RCC). We conducted a meta-analysis of two new scans of 5,198 cases and 7,331 controls together with four existing scans, totalling 10,784 cases and 20,406 controls of European ancestry. Twenty-four loci were tested in an additional 3,182 cases and 6,301 controls. We confirm the six known RCC risk ...
    • 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 ...
    • Sources of pre-analytical variations in yield of DNA extracted from blood samples: analysis of 50,000 DNA samples in EPIC 

      Caboux, Elodie; Lallemand, Christophe; Ferro, Gilles; Hemon, Bertrand; Mendy, Maimuna; Biessy, Carine; Sims, Matt; Wareham, Nicholas; Britten, Abigail; Boland, Anne; Hutchinson, Amy; Siddiq, Afshan; Vineis, Paolo; Riboli, Elio; Romieu, Isabelle; Rinaldi, Sabina; Gunter, Mark J.; Peeters, Petra H.M.; van der Schouw, Yvonne T.; Travis, Ruth C.; Bueno-De-Mesquita, H. Bas; Canzian, Federico; Sanchez, Maria-José; Skeie, Guri; Olsen, Karina Standahl; Lund, Eiliv; Bilbao, Roberto; Sala, Núria; Barricarte, Aurelio; Palli, Domenico; Navarro, Carmen; Panico, Salvatore; Redondo, Maria Luisa; Polidoro, Silvia; Dossus, Laure; Boutron-Ruault, Marie-Christine; Clavel-Chapelon, Françoise; Trichopoulou, Antonia; Trichopoulos, Dimitrios; Lagiou, Pagona; Boeing, Heiner; Fisher, Eva; Tumino, Rosario; Agnoli, Claudia; Hainaut, Pierre (Journal article; Tidsskriftartikkel; Peer reviewed, 2012)
      The European Prospective Investigation into Cancer and nutrition (EPIC) is a long-term, multi-centric prospective study in Europe investigating the relationships between cancer and nutrition. This study has served as a basis for a number of Genome-Wide Association Studies (GWAS) and other types of genetic analyses. Over a period of 5 years, 52,256 EPIC DNA samples have been extracted using an automated ...