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1.
19 p, 2.4 MB Multi-phenotype analyses of hemostatic traits with cardiovascular events reveal novel genetic associations / Temprano-Sagrera, Gerard (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ; Sitlani, Collen M. (University of Washington) ; Bone, William P. (University of Pennsylvania) ; Martín Bórnez, Miguel (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ; Voight, Benjamin F. (University of Pennsylvania Perelman School of Medicine) ; Morrison, Alanna C. ; Damrauer, Scott M. ; de Vries, Paul S. ; Smith, Nicholas L. ; Sabater Lleal, Maria (Institut d'Investigació Biomèdica Sant Pau) ; Dehghan, Abbas ; Heath, Adam S. ; Reiner, Alex P. ; Johnson, Andrew ; Richmond, Anne ; Peters, Annette ; van Hylckama Vlieg, Astrid ; McKnight, Barbara ; Psaty, Bruce M. ; Hayward, Caroline ; Ward-Caviness, Cavin ; O'Donnell, Cristopher ; Chasman, Daniel ; Strachan, David P. ; Tregouet, David A. ; Mook-Kanamori, Dennis ; Gill, Dipender ; Thibord, Florian ; Asselbergs, Folkert W. ; Leebeek, Frank W. G. ; Rosendaal, Frits R. ; Davies, Gail ; Homuth, Georg ; Temprano, Gerard ; Campbell, Harry ; Taylor, Herman A. ; Bressler, Jan ; Huffman, Jennifer E. ; Rotter, Jerome I. ; Yao, Jie ; Wilson, James F. ; Bis, Joshua C. ; Hahn, Julie M. ; Desch, Karl C. ; Wiggins, Kerri L. ; Raffield, Laura M. ; Bielak, Lawrence F. ; Yanek, Lisa R. ; Kleber, Marcus E. ; Mueller, Martina ; Kavousi, Maryam ; Mangino, Massimo ; Liu, Melissa ; Brown, Michael R. ; Conomos, Matthew P. ; Jhun, Min-A. ; Chen, Ming-Huei ; de Maat, Moniek P. M. ; Pankratz, Nathan ; Smith, Nicholas L. ; Peyser, Patricia A. ; Elliot, Paul ; Wei, Peng ; Wild, Philipp S. ; Morange, Pierre E. ; van der Harst, Pim ; Yang, Qiong ; Le, Ngoc-Quynh ; Marioni, Riccardo ; Li, Ruifang ; Damrauer, Scott M. ; Cox, Simon R. ; Trompet, Stella ; Felix, Stephan B. ; Völker, Uwe ; Tang, Weihong ; Koenig, Wolfgang ; Jukema, J. Wouter ; Guo, Xiuqing ; 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 M. ; Suchon, Pierre ; Chen, Ming-Huei ; Turman, Constance ; Germain, Marine ; Wiggins, Kerri L. ; MacDonald, James ; Braekkan, Sigrid K. ; 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 E. ; Deleuze, Jean-François ; O'Donnell, Chris J. ; Kim, Jihye ; McKnight, Barbara ; Kraft, Peter ; Hansen, John-Bjarne ; Rosendaal, Frits R. ; Heit, John A. ; Psaty, Bruce M. ; Tang, Weihong ; Kooperberg, Charles ; Hveem, Kristian ; Ridker, Paul M. ; Morange, Pierre-Emmanuel ; Johnson, Andrew D. ; Kabrhel, Christopher ; Trégouët, David-Alexandre ; Smith, Nicholas L. ; Malik, Rainer ; Chauhan, Ganesh ; Traylor, Matthew ; Sargurupremraj, Muralidharan ; Okada, Yukinori ; Mishra, Aniket ; Rutten-Jacobs, Loes ; Giese, Anne-Katrin ; van der Laan, Sander W. ; Gretarsdottir, Solveig ; Anderson, Christopher D. ; Chong, Michael ; Adams, Hieab HH. ; Ago, Tetsuro ; Almgren, Peter ; Amouyel, Philippe ; Ay, Hakan ; Bartz, Traci M. ; Benavente, Oscar R. ; Bevan, Steve ; Boncoraglio, Giorgio B. ; Brown, Robert D. ; Butterworth, Aadam S. ; Carrera, Caty ; Carty, Cara L. ; Chen, Wei-Min ; Cole, John W. ; Correa, Adolfo ; Cotlarciuc, Ioanna ; Cruchaga, Carlos ; Danesh, John ; de Bakker, Paul I. W. ; DeStefano, Anita L. ; den Hoed, Marcel ; Duan, Qing ; Engelter, Stefan T. ; Falcone, Guido J. ; Gottesman, Rebecca F. ; Grewal, Raji P. ; Gudnason, Vilmundur ; Gustafsson, Stefan ; Haessler, Jeffrey ; Harris, Tamara B. ; Hassan, Ahamad ; Havulinna, Aki S. ; Heckbert, Susan R. ; Holliday, Elizabeth G. ; Howard, George ; Hsu, Fang-Chi ; Hyacinth, Hyacinth I. ; Arfan Ikram, M. ; Ingelsson, Erik ; Irvin, Marguerite R. ; Jian, Xueqiu ; Jiménez-Conde, Jordi ; Johnson, Julie A. ; Jukema, J. Wouter ; Kanai, Masahiro ; Keene, Keith L. ; Kissela, Brett M. ; Kleindorfer, Dawn O. ; Kooperberg, Charles ; Kubo, Michiaki ; Lange, Leslie A. ; Langefeld, Carl D. ; Langenberg, Claudia ; Launer, Lenore J. ; Lee, Jin-Moo ; Lemmens, Robin ; Leys, Didier ; Lewis, Cathryn M. ; Lin, Wei-Yu ; Lindgren, Arne G. ; Lorentzen, Erik ; Magnusson, Patrik K. ; Maguire, Jane ; Manichaikul, Ani ; McArdle, Patrick F. ; Meschia, James F. ; Mitchell, Braxton D. ; Mosley, Thomas H. ; Nalls, Michael A. ; Ninomiya, Toshiharu ; O'Donnell, Martin J. ; Psaty, Bruce M. ; Pulit, Sara L. ; Rannikmäe, Kristiina ; Reiner, Alexander P. ; Rexrode, Kathryn M. ; Rice, Kenneth ; Rich, Stephen S. ; Ridker, Paul M. ; Rost, Natalia S. ; Rothwell, Peter M. ; Rotter, Jerome I. ; Rundek, Tatjana ; Sacco, Ralph L. ; Sakaue, Saori ; Sale, Michele M. ; Salomaa, Veikko ; Sapkota, Bishwa R. ; Schmidt, Reinhold ; Schmidt, Carsten O. ; Schminke, Ulf ; Sharma, Pankaj ; Slowik, Agnieszka ; Sudlow, Cathie L. M. ; Tanislav, Christian ; Tatlisumak, Turgut ; Taylor, Kent D. ; Thijs, Vincent N. S. ; Thorleifsson, Gudmar ; Thorsteinsdottir, Unnur ; Tiedt, Steffen ; Trompet, Stella ; Tzourio, Christophe ; van Duijn, Cornelia M. ; Walters, Matthew ; Wareham, Nicholas J. ; Wassertheil-Smoller, Sylvia ; Wilson, James G. ; Wiggins, Kerri L. ; Yang, Qiong ; Yusuf, Salim ; Amin, Najaf ; Aparicio, Hugo S. ; Arnett, Donna K. ; Attia, John ; Beiser, Alexa S. ; Berr, Claudine ; Buring, Julie E. ; Bustamante, Mariana ; Caso, Valeria ; Cheng, Yu-Ching ; Hoan Choi, Seung ; Chowhan, Ayesha ; Cullell, Natalia ; Dartigues, Jean-François ; Delavaran, Hossein ; Delgado, Pilar ; Dörr, Marcus ; Engström, Gunnar ; Ford, Ian ; Gurpreet, Wander S. ; Hamsten, Anders ; Heitsch, Laura ; Hozawa, Aatsushi ; Ibanez, Laura ; Ilinca, Andrea ; Ingelsson, Martin ; Iwasaki, Motoki ; Jackson, Rebecca D. ; Jood, Katarina ; Jousilahti, Pekka ; Kaffashian, Sara ; Kalra, Lalit ; Kamouchi, Masahiro ; Kitazono, Takanari ; Kjartansson, Olafur ; Kloss, Manja ; Koudstaal, Peter J. ; Krupinski, Jerzy ; Labovitz, Daniel L. ; Laurie, Cathy C. ; Levi, Christhoper R. ; Li, Linxin ; Lind, Lars ; Lindgren, Cecilia M. ; Lioutas, Vasileios ; Mei Liu, Yong ; Lopez, Oscar L. ; Makoto, Hirata ; Martinez-Majander, Nicolas ; Matsuda, Koichi ; Minegishi, Naoko ; Montaner, Joan ; Morris, Andrew P. ; Muiño, Elena ; Müller-Nurasyid, Martina ; Norrving, Bo ; Ogishima, Soichi ; Parati, Eugenio A. ; Reddy Peddareddygari, Leema ; Pedersen, Nancy L. ; Pera, Joanna ; Perola, Markus ; Pezzini, Alessandro ; Pileggi, Silvana ; Rabionet, Raquel ; Riba-Llena, Iolanda ; Ribasés, Marta ; Romero, Jose R. ; Roquer, Jaume ; Rudd, Anthony G. ; Sarin, Antti-Pekka ; Sarju, Ralhan ; Sarnowski, Chloe ; Sasaki, Makoto ; Satizabal, Claudia L. ; Satoh, Mamoru ; Sattar, Naveed ; Sawada, Norie ; Sibolt, Gerli ; Sigurdsson, Ásgeir ; Smith, Albert ; Sobue, Kenji ; Soriano-Tárraga, Carolina ; Stanne, Tara ; Colin Stine, O. ; Stott, David J. ; Strauch, Konstantin ; Takai, Takako ; Tanaka, Hideo ; Tanno, Kozo ; Teumer, Alexander ; Tomppo, Liisa ; Torres-Aguila, Nuria P. ; Touze, Emmanuel ; Tsugane, Shoichiro ; Uitterlinden, Aandre G. ; Valdimarsson, Einar M. ; van der Lee, Sven J. ; Völzke, Henry ; Wakai, Kenji ; Weir, David ; Williams, Stephen R. ; Wolfe, Charles D.A. ; Wong, Quenna ; Xu, Huichun ; Yamaji, Taiki ; Sanghera, Dharambir K. ; Melander, Olle ; Jern, Christina ; Strbian, Daniel ; Fernandez-Cadenas, Israel ; Longstreth, W.T. ; Rolfs, Arndt ; Hata, Jun ; Woo, Daniel ; Rosand, Jonathan ; Pare, Guillaume ; Hopewell, Jemma C. ; Saleheen, Danish ; Stefansson, Kari ; Worrall, BradfordB. ; Kittner, Steven J. ; Seshadri, Sudha ; Fornage, Myriam ; Markus, Hugh S. ; Howson, Joana M. M. ; Kamatani, Yoichiro ; Debette, Stephanie ; Dichgans, Martin ; Universitat Autònoma de Barcelona
Multi-phenotype analysis of genetically correlated phenotypes can increase the statistical power to detect loci associated with multiple traits, leading to the discovery of novel loci. This is the first study to date to comprehensively analyze the shared genetic effects within different hemostatic traits, and between these and their associated disease outcomes. [...]
2022 - 10.1111/jth.15698
Journal of Thrombosis and Haemostasis, Vol. 20 Núm. 6 (01 2022) , p. 1331-1349  
2.
7 p, 299.7 KB Rare coding variants and X-linked loci associated with age at menarche / Lunetta, Kathryn L. (Boston University School of Public Health (Estats Units d'Amèrica)) ; Day, Felix R. (University of Cambridge. School of Clinical Medicine (Gran Bretanya)) ; Sulem, Patrick (deCODE Genetics (Reykjavík, Islàndia)) ; Ruth, Katherine S. (University of Exeter. Medical School (Gran Bretanya)) ; Tung, Joyce Y. (23andMe (California, Estats Units d'Amèrica)) ; Hinds, David A. (23andMe (California, Estats Units d'Amèrica)) ; Esko, Tõnu (University of Tartu. Estonian Genome Center (Estònia)) ; Elks, Cathy E. (University of Cambridge. School of Clinical Medicine (Gran Bretanya)) ; Altmaier, Elisabeth (Helmholtz Zentrum München (Alemanya)) ; He, Chunyan (Fairbanks School of Public Health (Indianapolis, Estats Units d'Amèrica)) ; Huffman, Jennifer E. (University of Edinburgh. Institute of Genetics and Molecular Medicine (Gran Bretanya)) ; Mihailov, Evelin (University of Tartu. Estonian Genome Center (Estònia)) ; Porcu, Eleonora (Institute of Genetics and Biomedical Research (Sardinia, Itàlia)) ; Robino, Antonietta (Institute for Maternal and Child Health (Trieste, Itàlia)) ; Rose, Lynda M. (Brigham and Women's Hospital (Boston, Estats Units d'Amèrica)) ; Schick, Ursula M. (Fred Hutchinson Cancer Research Center (Seattle, Estats Units d'Amèrica)) ; Stolk, Lisette (Erasmus University Rotterdam) ; Teumer, Alexander (University Medicine Greifswald (Alemanya)) ; Thompson, Deborah J. (University of Cambridge. Centre for Cancer Genetic Epidemiology) ; Traglia, Michela (San Raffaele Scientific Institute (Milà, Itàlia)) ; Wang, Carol A. (University of Western Australia. School of Women's and Infants' Health (Crawley, Austràlia)) ; Yerges-Armstrong, Laura M. (University of Maryland School of Medicine (Estats Units d'Amèrica)) ; Antoniou, Antonis C. (University of Cambridge. Centre for Cancer Genetic Epidemiology) ; Barbieri, Caterina (San Raffaele Scientific Institute (Milà, Itàlia)) ; Coviello, Andrea D. (Boston University School of Medicine (Estats Units d'Amèrica)) ; Cucca, Francesco (Institute of Genetics and Biomedical Research (Sardinia, Itàlia)) ; Demerath, Ellen W. (University of Minnesota (Minneapolis, Estats Units d'Amèrica)) ; Dunning, Alison M. (University of Cambridge. Centre for Cancer Genetic Epidemiology) ; Gandin, Ilaria (Institute for Maternal and Child Health (Trieste, Itàlia)) ; Grove, Megan L. (University of Texas Health Science Center at Houston (Estats Units d'Amèrica)) ; Gudbjartsson, Daniel F. (deCODE Genetics (Reykjavík, Islàndia)) ; Hocking, Lynne J. (University of Aberdeen (Regne Unit)) ; Hofman, Albert (Erasmus MC (Rotterdam, Paisos Baixos)) ; Huang, Jinyan (Shanghai Jiao Tong University School of Medicine) ; Jackson, Rebecca D. (The Ohio State University (Estats Units d'Amèrica)) ; Karasik, David (Harvard Medical School (Boston, Estats Units d'Amèrica)) ; Kriebel, Jennifer (Helmholtz Zentrum München (Alemanya)) ; Lange, Ethan M. (University of North Carolina. Department of Genetics (Estats Units d'Amèrica)) ; Lange, Leslie A. (University of North Carolina. Department of Genetics (Estats Units d'Amèrica)) ; Langenberg, Claudia (University of Cambridge. School of Clinical Medicine (Gran Bretanya)) ; Li, Xin (Harvard T.H. Chan School of Public Health (Boston, Estats Units d'Amèrica)) ; Luan, Jian'an (University of Cambridge. School of Clinical Medicine (Gran Bretanya)) ; Mägi, Reedik (University of Tartu. Estonian Genome Center (Estònia)) ; Morrison, Alanna C. (University of Texas Health Science Center at Houston (Estats Units d'Amèrica)) ; Padmanabhan, Sandosh (University of Glasgow. Institute of Cardiovascular and Medical Sciences (Gran Bretanya)) ; Pirie, Ailith (University of Cambridge. Centre for Cancer Genetic Epidemiology) ; Polasek, Ozren (University of Split. School of Medicine (Croàcia)) ; Porteous, David (University of Edinburgh.Institute of Genetics and Molecular Medicine (Gran Bretanya)) ; Reiner, Alex P. (Fred Hutchinson Cancer Research Center (Seattle, Estats Units d'Amèrica)) ; Rivadeneira, Fernando (Erasmus University Rotterdam) ; Rudan, Igor (University of Edinburgh. Institute for Population Health Sciences and Informatics (Gran Bretanya)) ; Sala, Cinzia F. (San Raffaele Scientific Institute (Milà, Itàlia)) ; Schlessinger, David (National Institute on Aging (Baltimore, Estats Units d'Amèrica)) ; Scott, Robert A. (University of Cambridge. School of Clinical Medicine (Gran Bretanya)) ; Stöckl, Doris (German Research Center for Environmental Health (Germany)) ; Visser, J. (Erasmus University Rotterdam) ; Völker, Uwe (Greifswald Medical School (Alemanya)) ; Vozzi, Diego (Institute for Maternal and Child Health (Trieste, Itàlia)) ; Wilson, James G. (University of Mississippi. Department of Physiology and Biophysics (Estats Units d'Amèrica)) ; Zygmunt, Marek (Greifswald Medical School (Alemanya)) ; Boerwinkle, Eric (University of Texas Health Science Center at Houston (Estats Units d'Amèrica)) ; Buring, Julie (Brigham and Women's Hospital (Boston, Estats Units d'Amèrica)) ; Crisponi, Laura (Institute of Genetics and Biomedical Research (Sardinia, Itàlia)) ; Easton, Douglas F. (University of Cambridge. Centre for Cancer Genetic Epidemiology) ; Hayward, Caroline (University of Edinburgh. Institute of Genetics and Molecular Medicine (Gran Bretanya)) ; Hu, Frank B. (Harvard Medical School (Boston, Estats Units d'Amèrica)) ; Liu, Simin (Brown University. Departments of Epidemiology and Medicine (Providence, Estats Units d'Amèrica)) ; Metspalu, Andres (University of Tartu. Estonian Genome Center (Estònia)) ; Pennell, Craig E. (University of Western Australia. School of Women's and Infants' Health (Crawley, Austràlia)) ; Ridker, Paul M. (Brigham and Women's Hospital (Boston, Estats Units d'Amèrica)) ; Strauch, Konstantin (German Research Center for Environmental Health (Germany)) ; Streeten, Elizabeth A. (University of Maryland School of Medicine (Estats Units d'Amèrica)) ; Toniolo, Daniela (San Raffaele Scientific Institute (Milà, Itàlia)) ; Uitterlinden, André G. (Erasmus University Rotterdam) ; Ulivi, Sheila (Institute for Maternal and Child Health (Trieste, Itàlia)) ; Völzke, Henry (University Medicine Greifswald (Alemanya)) ; Wareham, Nicholas J. (University of Cambridge. School of Clinical Medicine (Gran Bretanya)) ; Wellons, Melissa (Vanderbilt University Medical Center (Nashville, Estats Units d'Amèrica)) ; Franceschini, Nora (University of North Carolina (Estats Units d'Amèrica). Department of Epidemiology) ; Chasman, Daniel I. (Brigham and Women's Hospital (Boston, Estats Units d'Amèrica)) ; Thorsteinsdottir, Unnur (deCODE Genetics (Reykjavík, Islàndia)) ; Murray, Anna (University of Exeter. Medical School (Gran Bretanya)) ; Stefánsson, Kári (deCODE Genetics (Reykjavík, Islàndia)) ; Murabito, Joanne M. (National Heart, Lung, and Blood Institute (Framingham, Estats Units d'Amèrica)) ; Ong, Ken K. (University of Cambridge. School of Clinical Medicine (Gran Bretanya)) ; Perry, John R. B. (University of Cambridge. School of Clinical Medicine (Gran Bretanya))
More than 100 loci have been identified for age at menarche by genome-wide association studies; however, collectively these explain only ∼3% of the trait variance. Here we test two overlooked sources of variation in 192,974 European ancestry women: low-frequency protein-coding variants and X-chromosome variants. [...]
2015 - 10.1038/ncomms8756
Nature communications, Vol. 4 Núm. 6 (august 2015)  

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