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Results: 791
Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.
Rebecca Sims, Sven J van der Lee, Adam C Naj, Céline Bellenguez, Nandini Badarinarayan, Johanna Jakobsdottir, Brian W Kunkle, Anne Boland, Rachel Raybould, Joshua C Bis, Eden R Martin, Benjamin Grenier-Boley, Stefanie Heilmann-Heimbach, Vincent Chouraki, Amanda B Kuzma, Kristel Sleegers, Maria Vronskaya, Agustin Ruiz, Robert R Graham, Robert Olaso, Per Hoffmann, Megan L Grove, Badri N Vardarajan, Mikko Hiltunen, Markus M Nöthen, Charles C White, Kara L Hamilton-Nelson, Jacques Epelbaum, Wolfgang Maier, Seung-Hoan Choi, Gary W Beecham, Cécile Dulary, Stefan Herms, Albert V Smith, Cory C Funk, Céline Derbois, Andreas J Forstner, Shahzad Ahmad, Hongdong Li, Delphine Bacq, Denise Harold, Claudia L Satizabal, Otto Valladares, Alessio Squassina, Rhodri Thomas, Jennifer A Brody, Liming Qu, Pascual Sánchez-Juan, Taniesha Morgan, Frank J Wolters, Yi Zhao, Florentino Sanchez Garcia, Nicola Denning, Myriam Fornage, John Malamon, Maria Candida Deniz Naranjo, Elisa Majounie, Thomas H Mosley, Beth Dombroski, David Wallon, Michelle K Lupton, Josée Dupuis, Patrice Whitehead, Laura Fratiglioni, Christopher Medway, Xueqiu Jian, Shubhabrata Mukherjee, Lina Keller, Kristelle Brown, Honghuang Lin, Laura B Cantwell, Francesco Panza, Bernadette McGuinness, Sonia Moreno-Grau, Jeremy D Burgess, Vincenzo Solfrizzi, Petra Proitsi, Hieab H Adams, Mariet Allen, Davide Seripa, Pau Pastor, L Adrienne Cupples, Nathan D Price, Didier Hannequin, Ana Frank-García, Daniel Levy, Paramita Chakrabarty, Paolo Caffarra, Ina Giegling, Alexa S Beiser, Vilmantas Giedraitis, Harald Hampel, Melissa E Garcia, Xue Wang, Lars Lannfelt, Patrizia Mecocci, Gudny Eiriksdottir, Paul K Crane, Florence Pasquier, Virginia Boccardi, Isabel Henández, Robert C Barber, Martin Scherer, Lluis Tarraga, Perrie M Adams, Markus Leber, Yuning Chen, Marilyn S Albert, Steffi Riedel-Heller, Valur Emilsson, Duane Beekly, Anne Braae, Reinhold Schmidt, Deborah Blacker, Carlo Masullo, Helena Schmidt, Rachelle S Doody, Gianfranco Spalletta, WT Longstreth, Thomas J Fairchild, Paola Bossù, Oscar L Lopez, Matthew P Frosch, Eleonora Sacchinelli, Bernardino Ghetti, Qiong Yang, Ryan M Huebinger, Frank Jessen, Shuo Li, M Ilyas Kamboh, John Morris, Oscar Sotolongo-Grau, Mindy J Katz, Chris Corcoran, Melanie Dunstan, Amy Braddel, Charlene Thomas, Alun Meggy, Rachel Marshall, Amy Gerrish, Jade Chapman, Miquel Aguilar, Sarah Taylor, Matt Hill, Mònica Díez Fairén, Angela Hodges, Bruno Vellas, Hilkka Soininen, Iwona Kloszewska, Makrina Daniilidou, James Uphill, Yogen Patel, Joseph T Hughes, Jenny Lord, James Turton, Annette M Hartmann, Roberta Cecchetti, Chiara Fenoglio, Maria Serpente, Marina Arcaro, Carlo Caltagirone, Maria Donata Orfei, Antonio Ciaramella, Sabrina Pichler, Manuel Mayhaus, Wei Gu, Alberto Lleó, Juan Fortea, Rafael Blesa, Imelda S Barber, Keeley Brookes, Chiara Cupidi, Raffaele Giovanni Maletta, David Carrell, Sandro Sorbi, Susanne Moebus, Maria Urbano, Alberto Pilotto, Johannes Kornhuber, Paolo Bosco, Stephen Todd, David Craig, Janet Johnston, Michael Gill, Brian Lawlor, Aoibhinn Lynch, Nick C Fox, John Hardy, ARUK Consortium, Roger L Albin, Liana G Apostolova, Steven E Arnold, Sanjay Asthana, Craig S Atwood, Clinton T Baldwin, Lisa L Barnes, Sandra Barral, Thomas G Beach, James T Becker, Eileen H Bigio, Thomas D Bird, Bradley F Boeve, James D Bowen, Adam Boxer, James R Burke, Jeffrey M Burns, Joseph D Buxbaum, Nigel J Cairns, Chuanhai Cao, Chris S Carlson, Cynthia M Carlsson, Regina M Carney, Minerva M Carrasquillo, Steven L Carroll, Carolina Ceballos Diaz, Helena C Chui, David G Clark, David H Cribbs, Elizabeth A Crocco, Charles DeCarli, Malcolm Dick, Ranjan Duara, Denis A Evans, Kelley M Faber, Kenneth B Fallon, David W Fardo, Martin R Farlow, Steven Ferris, Tatiana M Foroud, Douglas R Galasko, Marla Gearing, Daniel H Geschwind, John R Gilbert, Neill R Graff-Radford, Robert C Green, John H Growdon, Ronald L Hamilton, Lindy E Harrell, Lawrence S Honig, Matthew J Huentelman, Christine M Hulette, Bradley T Hyman, Gail P Jarvik, Erin Abner, Lee-Way Jin, Gyungah Jun, Anna Karydas, Jeffrey A Kaye, Ronald Kim, Neil W Kowall, Joel H Kramer, Frank M LaFerla, James J Lah, James B Leverenz, Allan I Levey, Ge Li, Andrew P Lieberman, Kathryn L Lunetta, Constantine G Lyketsos, Daniel C Marson, Frank Martiniuk, Deborah C Mash, Eliezer Masliah, Wayne C McCormick, Susan M McCurry, Andrew N McDavid, Ann C McKee, Marsel Mesulam, Bruce L Miller, Carol A Miller, Joshua W Miller, John C Morris, Jill R Murrell, Amanda J Myers, Sid O'Bryant, John M Olichney, Vernon S Pankratz, Joseph E Parisi, Henry L Paulson, William Perry, Elaine Peskind, Aimee Pierce, Wayne W Poon, Huntington Potter, Joseph F Quinn, Ashok Raj, Murray Raskind, Barry Reisberg, Christiane Reitz, John M Ringman, Erik D Roberson, Ekaterina Rogaeva, Howard J Rosen, Roger N Rosenberg, Mark A Sager, Andrew J Saykin, Julie A Schneider, Lon S Schneider, William W Seeley, Amanda G Smith, Joshua A Sonnen, Salvatore Spina, Robert A Stern, Russell H Swerdlow, Rudolph E Tanzi, Tricia A Thornton-Wells, John Q Trojanowski, Juan C Troncoso, Vivianna M Van Deerlin, Linda J Van Eldik, Harry V Vinters, Jean Paul Vonsattel, Sandra Weintraub, Kathleen A Welsh-Bohmer, Kirk C Wilhelmsen, Jennifer Williamson, Thomas S Wingo, Randall L Woltjer, Clinton B Wright, Chang-En Yu, Lei Yu, Fabienne Garzia, Feroze Golamaully, Gislain Septier, Sebastien Engelborghs, Rik Vandenberghe, Peter P De Deyn, Carmen Muñoz Fernadez, Yoland Aladro Benito, Hakan Thonberg, Charlotte Forsell, Lena Lilius, Anne Kinhult-Stählbom, Lena Kilander, RoseMarie Brundin, Letizia Concari, Seppo Helisalmi, Anne Maria Koivisto, Annakaisa Haapasalo, Vincent Dermecourt, Nathalie Fievet, Olivier Hanon, Carole Dufouil, Alexis Brice, Karen Ritchie, Bruno Dubois, Jayanadra J Himali, C Dirk Keene, JoAnn Tschanz, Annette L Fitzpatrick, Walter A Kukull, Maria Norton, Thor Aspelund, Eric B Larson, Ron Munger, Jerome I Rotter, Richard B Lipton, María J Bullido, Albert Hofman, Thomas J Montine, Eliecer Coto, Eric Boerwinkle, Ronald C Petersen, Victoria Alvarez, Fernando Rivadeneira, Eric M Reiman, Maura Gallo, Christopher J O'Donnell, Joan S Reisch, Amalia Cecilia Bruni, Donald R Royall, Martin Dichgans, Mary Sano, Daniela Galimberti, Peter St George-Hyslop, Elio Scarpini, Debby W Tsuang, Michelangelo Mancuso, Ubaldo Bonuccelli, Ashley R Winslow, Antonio Daniele, Chuang-Kuo Wu, CHARGE, ADGC, EADI GERAD/PERADES, Oliver Peters, Benedetta Nacmias, Matthias Riemenschneider, Reinhard Heun, Carol Brayne, David C Rubinsztein, Jose Bras, Rita Guerreiro, Ammar Al-Chalabi, Christopher E Shaw, John Collinge, David Mann, Magda Tsolaki, Jordi Clarimón, Rebecca Sussams, Simon Lovestone, Michael C O'Donovan, Michael J Owen, Timothy W Behrens, Simon Mead, Alison M Goate, Andre G Uitterlinden, Clive Holmes, Carlos Cruchaga, Martin Ingelsson, David A Bennett, John Powell, Todd E Golde, Caroline Graff, Philip L De Jager, Kevin Morgan, Nilufer Ertekin-Taner, Onofre Combarros, Bruce M Psaty, Peter Passmore, Steven G Younkin, Claudine Berr, Vilmundur Gudnason, Dan Rujescu, Dennis W Dickson, Jean-François Dartigues, Anita L DeStefano, Sara Ortega-Cubero, Hakon Hakonarson, Dominique Campion, Merce Boada, John Keoni Kauwe, Lindsay A Farrer, Christine Van Broeckhoven, M Arfan Ikram, Lesley Jones, Jonathan L Haines, Christophe Tzourio, Lenore J Launer, Valentina Escott-Price, Richard Mayeux, Jean-François Deleuze, Najaf Amin, Peter A Holmans, Margaret A Pericak-Vance, Philippe Amouyel, Cornelia M van Duijn, Alfredo Ramirez, Li-San Wang, Jean-Charles Lambert, Sudha Seshadri, Julie Williams, Gerard D Schellenberg
Apr 03, 2018
We identified rare coding variants associated with Alzheimer's disease in a three-stage case-control study of 85,133 subjects. In stage 1, we genotyped 34,174 samples using a whole-exome microarray. In stage 2, we tested...
Adaptor Proteins Signal Transducing Alzheimer Disease Amino Acid Sequence Case-Control Studies Exome Gene Expression Profiling Gene Frequency Genetic Predisposition to Disease Genotype Humans Immunity Innate Linkage Disequilibrium Membrane Glycoproteins Microglia Odds Ratio Phospholipase C gamma Polymorphism Single Nucleotide Protein Interaction Maps Receptors Immunologic Sequence Homology Amino Acid
Early loss of Crebbp confers malignant stem cell properties on lymphoid progenitors.
Sarah J Horton, George Giotopoulos, Haiyang Yun, Shabana Vohra, Olivia Sheppard, Rachael Bashford-Rogers, Mamunur Rashid, Alexandra Clipson, Wai-In Chan, Daniel Sasca, Loukia Yiangou, Hikari Osaki, Faisal Basheer, Paolo Gallipoli, Natalie Burrows, Ayşegül Erdem, Anastasiya Sybirna, Sarah Foerster, Wanfeng Zhao, Tonci Sustic, Anna Petrunkina Harrison, Elisa Laurenti, Jessica Okosun, Daniel Hodson, Penny Wright, Ken G Smith, Patrick Maxwell, Jude Fitzgibbon, Ming Q Du, David J Adams, Brian JP Huntly
Apr 06, 2018
Loss-of-function mutations of cyclic-AMP response element binding protein, binding protein (CREBBP) are prevalent in lymphoid malignancies. However, the tumour suppressor functions of CREBBP remain unclear. We demonstrate that...
Acetylation Animals CREB-Binding Protein Cell Proliferation Cell Self Renewal Cell Transformation Neoplastic Cells Cultured DNA Damage Epigenesis Genetic Gene Expression Regulation Neoplastic Genetic Predisposition to Disease Histones Lymphangiogenesis Lymphoid Progenitor Cells Lymphoma lymphopoiesis Methylation Mice Mice Inbred C57BL Mice Knockout Mutation Neoplastic Stem Cells Phenotype Signal Transduction Time Factors Transcription Genetic Tumor Suppressor Protein p53
Contrasting Phenotypes in Resistance to Thyroid Hormone Alpha Correlate with Divergent Properties of Thyroid Hormone Receptor α1 Mutant Proteins.
Carla Moran, Maura Agostini, Anne McGowan, Erik Schoenmakers, Louise Fairall, Greta Lyons, Odelia Rajanayagam, Laura Watson, Amaka Offiah, John Barton, Susan Price, John Schwabe, Krishna Chatterjee
Sep 29, 2018
BACKGROUND: Resistance to thyroid hormone alpha (RTHα), a disorder characterized by tissue-selective hypothyroidism and near-normal thyroid function tests due to thyroid receptor alpha gene mutations, is rare but probably...
dominant negative resistance to thyroid hormone alpha thyroid hormone action thyroid hormone receptor alpha Adolescent Genetic Predisposition to Disease Genotype Humans Male Mutation Phenotype Symptom Assessment Thyroid Hormone Receptors alpha Thyroid Hormone Resistance Syndrome Thyroxine Treatment Outcome Young Adult
Genetic Sharing with Cardiovascular Disease Risk Factors and Diabetes Reveals Novel Bone Mineral Density Loci.
Sjur Reppe, Yunpeng Wang, Wesley K Thompson, Linda K McEvoy, Andrew J Schork, Verena Zuber, Marissa LeBlanc, Francesco Bettella, Ian G Mills, Rahul S Desikan, Srdjan Djurovic, Kaare M Gautvik, Anders M Dale, Ole A Andreassen, GEFOS Consortium
Mar 11, 2019
Bone Mineral Density (BMD) is a highly heritable trait, but genome-wide association studies have identified few genetic risk factors. Epidemiological studies suggest associations between BMD and several traits and diseases, but...
Fine-mapping inflammatory bowel disease loci to single-variant resolution.
Hailiang Huang, Ming Fang, Luke Jostins, Maša Umićević Mirkov, Gabrielle Boucher, Carl A Anderson, Vibeke Andersen, Isabelle Cleynen, Adrian Cortes, François Crins, Mauro D'Amato, Valérie Deffontaine, Julia Dmitrieva, Elisa Docampo, Mahmoud Elansary, Kyle Kai-How Farh, Andre Franke, Ann-Stephan Gori, Philippe Goyette, Jonas Halfvarson, Talin Haritunians, Jo Knight, Ian C Lawrance, Charlie W Lees, Edouard Louis, Rob Mariman, Theo Meuwissen, Myriam Mni, Yukihide Momozawa, Miles Parkes, Sarah L Spain, Emilie Théâtre, Gosia Trynka, Jack Satsangi, Suzanne van Sommeren, Severine Vermeire, Ramnik J Xavier, International Inflammatory Bowel Disease Genetics Consortium, Rinse K Weersma, Richard H Duerr, Christopher G Mathew, John D Rioux, Dermot PB McGovern, Judy H Cho, Michel Georges, Mark J Daly, Jeffrey C Barrett
Mar 19, 2019
Inflammatory bowel diseases are chronic gastrointestinal inflammatory disorders that affect millions of people worldwide. Genome-wide association studies have identified 200 inflammatory bowel disease-associated loci, but few...
Adolescent Adult Aged Aged 80 and over Binding Sites Chromatin Colitis Ulcerative Crohn Disease Epigenesis Genetic Female Genetic Predisposition to Disease genetic variation Genome-Wide Association Study Genotype Humans Inflammatory Bowel Diseases Linkage Disequilibrium Male Middle Aged Quantitative Trait Loci Smad3 Protein Transcription Factors Young Adult
αE-catenin is a candidate tumor suppressor for the development of E-cadherin-expressing lobular-type breast cancer.
Jolien S de Groot, Max Ak Ratze, Miranda van Amersfoort, Tanja Eisemann, Eva J Vlug, Mijanou T Niklaas, Suet-Feung Chin, Carlos Caldas, Paul J van Diest, Jos Jonkers, Johan de Rooij, Patrick WB Derksen
Sep 10, 2018
Although mutational inactivation of E-cadherin (CDH1) is the main driver of invasive lobular breast cancer (ILC), approximately 10-15% of all ILCs retain membrane-localized E-cadherin despite the presence of an apparent...
E-cadherin Rho/Rock lobular breast cancer mouse model α-catenin (CTNNA1) Actomyosin Adherens Junctions Animals Anoikis Antigens CD Breast Neoplasms Cadherins Carcinoma Lobular Cell Adhesion Cell Proliferation Cell Shape Female Gene Expression Regulation Neoplastic Genetic Predisposition to Disease Humans MCF-7 Cells Mice Knockout Mutation Neoplasm Invasiveness Phenotype Signal Transduction Tumor Suppressor Protein p53 Tumor Suppressor Proteins alpha Catenin rho GTP-Binding Proteins rho-Associated Kinases
Genome-wide meta-analysis of macronutrient intake of 91,114 European ancestry participants from the cohorts for heart and aging research in genomic epidemiology consortium.
Jordi Merino, Hassan S Dashti, Sherly X Li, Chloé Sarnowski, Anne E Justice, Misa Graff, Constantina Papoutsakis, Caren E Smith, George V Dedoussis, Rozenn N Lemaitre, Mary K Wojczynski, Satu Männistö, Julius S Ngwa, Minjung Kho, Tarunveer S Ahluwalia, Natalia Pervjakova, Denise K Houston, Claude Bouchard, Tao Huang, Marju Orho-Melander, Alexis C Frazier-Wood, Dennis O Mook-Kanamori, Louis Pérusse, Craig E Pennell, Paul S de Vries, Trudy Voortman, Olivia Li, Stavroula Kanoni, Lynda M Rose, Terho Lehtimäki, Jing Hua Zhao, Mary F Feitosa, Jian'an Luan, Nicola M McKeown, Jennifer A Smith, Torben Hansen, Niina Eklund, Mike A Nalls, Tuomo Rankinen, Jinyan Huang, Dena G Hernandez, Christina-Alexandra Schulz, Ani Manichaikul, Ruifang Li-Gao, Marie-Claude Vohl, Carol A Wang, Frank JA van Rooij, Jean Shin, Ioanna P Kalafati, Felix Day, Paul M Ridker, Mika Kähönen, David S Siscovick, Claudia Langenberg, Wei Zhao, Arne Astrup, Paul Knekt, Melissa Garcia, DC Rao, Qibin Qi, Luigi Ferrucci, Ulrika Ericson, John Blangero, Albert Hofman, Zdenka Pausova, Vera Mikkilä, Nick J Wareham, Sharon LR Kardia, Oluf Pedersen, Antti Jula, Joanne E Curran, M Carola Zillikens, Jorma S Viikari, Nita G Forouhi, José M Ordovás, John C Lieske, Harri Rissanen, André G Uitterlinden, Olli T Raitakari, Jessica C Kiefte-de Jong, Josée Dupuis, Jerome I Rotter, Kari E North, Robert A Scott, Michael A Province, Markus Perola, L Adrienne Cupples, Stephen T Turner, Thorkild IA Sørensen, Veikko Salomaa, Yongmei Liu, Yun J Sung, Lu Qi, Stefania Bandinelli, Stephen S Rich, Renée de Mutsert, Angelo Tremblay, Wendy H Oddy, Oscar H Franco, Tomas Paus, Jose C Florez, Panos Deloukas, Leo-Pekka Lyytikäinen, Daniel I Chasman, Audrey Y Chu, Toshiko Tanaka
Sep 19, 2018
Macronutrient intake, the proportion of calories consumed from carbohydrate, fat, and protein, is an important risk factor for metabolic diseases with significant familial aggregation. Previous studies have identified two...
Aged aging Alpha-Ketoglutarate-Dependent Dioxygenase FTO Cohort Studies Energy Intake Female Fibroblast Growth Factors Genetic Loci Genetic Predisposition to Disease Genome-Wide Association Study Genomics Genotype Heart Diseases Humans Male Membrane Proteins Middle Aged nutrients obesity Polymorphism Single Nucleotide Receptors Retinoic Acid White People
Allocentric and Egocentric Spatial Processing in Middle-Aged Adults at High Risk of Late-Onset Alzheimer's Disease
Karen Ritchie, Isabelle Carrière, David Howett, Li Su, Michael Hornberger, John T O'Brien, Craig W Ritchie, Dennis Chan
Nov 12, 2018
Impairments in spatial processing due to hippocampal degeneration have been observed in the years immediately preceding the diagnosis of Alzheimer's disease (AD) dementia. The demonstration of changes in spatial processing in...
Alzheimer’s disease Cognition Diagnosis Magnetic Resonance Imaging neuropsychology Preclinical Prognosis Spatial Memory Age of Onset Alzheimer Disease Brain Cross-Sectional Studies Female Genetic Predisposition to Disease Humans Male Middle Aged Neuropsychological Tests Parents Prospective Studies Risk Factors Self Concept Space Perception Spatial Navigation
Genome-wide association study implicates immune dysfunction in the development of Hodgkin lymphoma.
Amit Sud, Hauke Thomsen, Giulia Orlando, Asta Försti, Philip J Law, Peter Broderick, Rosie Cooke, Fadi Hariri, Tomi Pastinen, Douglas F Easton, Paul DP Pharoah, Alison M Dunning, Julian Peto, Federico Canzian, Rosalind Eeles, Zsofia Kote-Jarai, Kenneth Muir, Nora Pashayan, Daniele Campa, Per Hoffmann, Markus M Nöthen, Karl-Heinz Jöckel, Elke Pogge von Strandmann, Anthony J Swerdlow, Andreas Engert, Nick Orr, Kari Hemminki, Richard S Houlston
Nov 21, 2018
Genetic determinants of risk in pulmonary arterial hypertension
Christopher J Rhodes, Ken Batai, Marta Bleda, Matthias Haimel, Laura Southgate, Marine Germain, Michael W Pauciulo, Charaka Hadinnapola, Jurjan Aman, Barbara Girerd, Amit Arora, Jo Knight, Ken B Hanscombe, Jason H Karnes, Marika Kaakinen, Henning Gall, Anna Ulrich, Lars Harbaum, Inês Cebola, Jorge Ferrer, Katie Lutz, Emilia M Swietlik, Ferhaan Ahmad, Philippe Amouyel, Stephen L Archer, Rahul Argula, Eric D Austin, David Badesch, Sahil Bakshi, Christopher Barnett, Raymond Benza, Nitin Bhatt, Harm J Bogaard, Charles D Burger, Murali Chakinala, Colin Church, John G Coghlan, Robin Condliffe, Paul A Corris, Cesare Danesino, Stéphanie Debette, C Gregory Elliott, Jean Elwing, Melanie Eyries, Terry Fortin, Andre Franke, Robert P Frantz, Adaani Frost, Joe GN Garcia, Stefano Ghio, Hossein-Ardeschir Ghofrani, J Simon R Gibbs, John Harley, Hua He, Nicholas S Hill, Russel Hirsch, Arjan C Houweling, Luke S Howard, Dunbar Ivy, David G Kiely, James Klinger, Gabor Kovacs, Tim Lahm, Matthias Laudes, Rajiv D Machado, Robert V MacKenzie Ross, Keith Marsolo, Lisa J Martin, Shahin Moledina, David Montani, Steven D Nathan, Michael Newnham, Andrea Olschewski, Horst Olschewski, Ronald J Oudiz, Willem H Ouwehand, Andrew J Peacock, Joanna Pepke-Zaba, Zia Rehman, Ivan Robbins, Dan M Roden, Erika B Rosenzweig, Ghulam Saydain, Laura Scelsi, Robert Schilz, Werner Seeger, Christian M Shaffer, Robert W Simms, Marc Simon, Olivier Sitbon, Jay Suntharalingam, Haiyang Tang, Alexander Y Tchourbanov, Thenappan Thenappan, Fernando Torres, Mark R Toshner, Carmen M Treacy, Anton Vonk Noordegraaf, Quinten Waisfisz, Anna K Walsworth, Robert E Walter, John Wharton, R James White, Jeffrey Wilt, Stephen J Wort, Delphine Yung, Allan Lawrie, Marc Humbert, Florent Soubrier, David-Alexandre Trégouët, Inga Prokopenko, Richard Kittles, Stefan Gräf, William C Nichols, Richard C Trembath, Ankit A Desai, Nicholas W Morrell, Martin R Wilkins, UK NIHR BioResource Rare Diseases Consortium, UK PAH Cohort Study Consortium, US PAH Biobank Consortium
Jan 08, 2019
BACKGROUND: Rare genetic variants cause pulmonary arterial hypertension, but the contribution of common genetic variation to disease risk and natural history is poorly characterised. We tested for genome-wide association for...
Female Genetic Predisposition to Disease genetic variation Genome-Wide Association Study Genotyping Techniques HLA-DP alpha-Chains HLA-DP beta-Chains Humans Male Middle Aged Polymorphism Single Nucleotide pulmonary arterial hypertension Risk Assessment SOXF Transcription Factors Signal Transduction Survival Analysis
New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.
Nick Shrine, Anna L Guyatt, A Mesut Erzurumluoglu, Victoria E Jackson, Brian D Hobbs, Carl A Melbourne, Chiara Batini, Katherine A Fawcett, Kijoung Song, Phuwanat Sakornsakolpat, Xingnan Li, Ruth Boxall, Nicola F Reeve, Ma'en Obeidat, Jing Hua Zhao, Matthias Wielscher, Stefan Weiss, Katherine A Kentistou, James P Cook, Benjamin B Sun, Jian Zhou, Jennie Hui, Stefan Karrasch, Medea Imboden, Sarah E Harris, Jonathan Marten, Stefan Enroth, Shona M Kerr, Ida Surakka, Veronique Vitart, Terho Lehtimäki, Richard J Allen, Per S Bakke, Terri H Beaty, Eugene R Bleecker, Yohan Bossé, Corry-Anke Brandsma, Zhengming Chen, James D Crapo, John Danesh, Dawn L DeMeo, Frank Dudbridge, Ralf Ewert, Christian Gieger, Amund Gulsvik, Anna L Hansell, Ke Hao, Joshua D Hoffman, John E Hokanson, Georg Homuth, Peter K Joshi, Philippe Joubert, Claudia Langenberg, Xuan Li, Liming Li, Kuang Lin, Lars Lind, Nicholas Locantore, Jian'an Luan, Anubha Mahajan, Joseph C Maranville, Alison Murray, David C Nickle, Richard Packer, Margaret M Parker, Megan L Paynton, David J Porteous, Dmitry Prokopenko, Dandi Qiao, Rajesh Rawal, Heiko Runz, Ian Sayers, Don D Sin, Blair H Smith, María Soler Artigas, David Sparrow, Ruth Tal-Singer, Paul RHJ Timmers, Maarten van den Berge, John C Whittaker, Prescott G Woodruff, Laura M Yerges-Armstrong, Olga G Troyanskaya, Olli T Raitakari, Mika Kähönen, Ozren Polašek, Ulf Gyllensten, Igor Rudan, Ian J Deary, Nicole M Probst-Hensch, Holger Schulz, Alan L James, James F Wilson, Beate Stubbe, Eleftheria Zeggini, Marjo-Riitta Jarvelin, Nick Wareham, Edwin K Silverman, Caroline Hayward, Andrew P Morris, Adam S Butterworth, Robert A Scott, Robin G Walters, Deborah A Meyers, Michael H Cho, David P Strachan, Ian P Hall, Martin D Tobin, Louise V Wain, Understanding Society Scientific Group
Jan 21, 2019
Reduced lung function predicts mortality and is key to the diagnosis of chronic obstructive pulmonary disease (COPD). In a genome-wide association study in 400,102 individuals of European ancestry, we define 279 lung function...
Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer.
Manuel A Ferreira, Eric R Gamazon, Fares Al-Ejeh, Kristiina Aittomäki, Irene L Andrulis, Hoda Anton-Culver, Adalgeir Arason, Volker Arndt, Kristan J Aronson, Banu K Arun, Ella Asseryanis, Jacopo Azzollini, Judith Balmaña, Daniel R Barnes, Daniel Barrowdale, Matthias W Beckmann, Sabine Behrens, Javier Benitez, Marina Bermisheva, Katarzyna Białkowska, Carl Blomqvist, Natalia V Bogdanova, Stig E Bojesen, Manjeet K Bolla, Ake Borg, Hiltrud Brauch, Hermann Brenner, Annegien Broeks, Barbara Burwinkel, Trinidad Caldés, Maria A Caligo, Daniele Campa, Ian Campbell, Federico Canzian, Jonathan Carter, Brian D Carter, Jose E Castelao, Jenny Chang-Claude, Stephen J Chanock, Hans Christiansen, Wendy K Chung, Kathleen BM Claes, Christine L Clarke, EMBRACE Collaborators, GC-HBOC Study Collaborators, GEMO Study Collaborators, Fergus J Couch, Angela Cox, Simon S Cross, Kamila Czene, Mary B Daly, Miguel de la Hoya, Joe Dennis, Peter Devilee, Orland Diez, Thilo Dörk, Alison M Dunning, Miriam Dwek, Diana M Eccles, Bent Ejlertsen, Carolina Ellberg, Christoph Engel, Mikael Eriksson, Peter A Fasching, Olivia Fletcher, Henrik Flyger, Eitan Friedman, Debra Frost, Marike Gabrielson, Manuela Gago-Dominguez, Patricia A Ganz, Susan M Gapstur, Judy Garber, Montserrat García-Closas, José A García-Sáenz, Mia M Gaudet, Graham G Giles, Gord Glendon, Andrew K Godwin, Mark S Goldberg, David E Goldgar, Anna González-Neira, Mark H Greene, Jacek Gronwald, Pascal Guénel, Christopher A Haiman, Per Hall, Ute Hamann, Wei He, Jane Heyworth, Frans BL Hogervorst, Antoinette Hollestelle, Robert N Hoover, John L Hopper, Peter J Hulick, Keith Humphreys, Evgeny N Imyanitov, ABCTB Investigators, HEBON Investigators, BCFR Investigators, Claudine Isaacs, Milena Jakimovska, Anna Jakubowska, Paul A James, Ramunas Janavicius, Rachel C Jankowitz, Esther M John, Nichola Johnson, Vijai Joseph, Beth Y Karlan, Elza Khusnutdinova, Johanna I Kiiski, Yon-Dschun Ko, Michael E Jones, Irene Konstantopoulou, Vessela N Kristensen, Yael Laitman, Diether Lambrechts, Conxi Lazaro, Goska Leslie, Jenny Lester, Fabienne Lesueur, Sara Lindström, Jirong Long, Jennifer T Loud, Jan Lubiński, Enes Makalic, Arto Mannermaa, Mehdi Manoochehri, Sara Margolin, Tabea Maurer, Dimitrios Mavroudis, Lesley McGuffog, Alfons Meindl, Usha Menon, Kyriaki Michailidou, Austin Miller, Marco Montagna, Fernando Moreno, Lidia Moserle, Anna Marie Mulligan, Katherine L Nathanson, Susan L Neuhausen, Heli Nevanlinna, Ines Nevelsteen, Finn C Nielsen, Liene Nikitina-Zake, Robert L Nussbaum, Kenneth Offit, Edith Olah, Olufunmilayo I Olopade, Håkan Olsson, Ana Osorio, Janos Papp, Tjoung-Won Park-Simon, Michael T Parsons, Inge Sokilde Pedersen, Ana Peixoto, Paolo Peterlongo, Paul DP Pharoah, Dijana Plaseska-Karanfilska, Bruce Poppe, Nadege Presneau, Paolo Radice, Johanna Rantala, Gad Rennert, Harvey A Risch, Emmanouil Saloustros, Kristin Sanden, Elinor J Sawyer, Marjanka K Schmidt, Rita K Schmutzler, Priyanka Sharma, Xiao-Ou Shu, Jacques Simard, Christian F Singer, Penny Soucy, Melissa C Southey, John J Spinelli, Amanda B Spurdle, Jennifer Stone, Anthony J Swerdlow, William J Tapper, Jack A Taylor, Manuel R Teixeira, Mary Beth Terry, Alex Teulé, Mads Thomassen, Kathrin Thöne, Darcy L Thull, Marc Tischkowitz, Amanda E Toland, Diana Torres, Thérèse Truong, Nadine Tung, Celine M Vachon, Christi J van Asperen, Ans Mw van den Ouweland, Elizabeth J van Rensburg, Ana Vega, Alessandra Viel, Qin Wang, Barbara Wappenschmidt, Jeffrey N Weitzel, Camilla Wendt, Robert Winqvist, Xiaohong R Yang, Drakoulis Yannoukakos, Argyrios Ziogas, Peter Kraft, Antonis C Antoniou, Wei Zheng, Douglas F Easton, Roger L Milne, Jonathan Beesley, Georgia Chenevix-Trench
Jan 29, 2019
Genome-wide association studies (GWAS) have identified more than 170 breast cancer susceptibility loci. Here we hypothesize that some risk-associated variants might act in non-breast tissues, specifically adipose tissue and...
Agnostic Pathway/Gene Set Analysis of Genome-Wide Association Data Identifies Associations for Pancreatic Cancer.
Naomi Walsh, Han Zhang, Paula L Hyland, Qi Yang, Evelina Mocci, Mingfeng Zhang, Erica J Childs, Irene Collins, Zhaoming Wang, Alan A Arslan, Laura Beane-Freeman, Paige M Bracci, Paul Brennan, Federico Canzian, Eric J Duell, Steven Gallinger, Graham G Giles, Michael Goggins, Gary E Goodman, Phyllis J Goodman, Rayjean J Hung, Charles Kooperberg, Robert C Kurtz, Núria Malats, Loic Lemarchand, Rachel E Neale, Sara H Olson, Ghislaine Scelo, Xiao O Shu, Stephen K Van Den Eeden, Kala Visvanathan, Emily White, Wei Zheng, PanScan and PanC4 consortia, Demetrius Albanes, Gabriella Andreotti, Ana Babic, William R Bamlet, Sonja I Berndt, Ayelet Borgida, Marie-Christine Boutron-Ruault, Lauren Brais, Paul Brennan, Bas Bueno-de-Mesquita, Julie Buring, Kari G Chaffee, Stephen Chanock, Sean Cleary, Michelle Cotterchio, Lenka Foretova, Charles Fuchs, J Michael M Gaziano, Edward Giovannucci, Michael Goggins, Thilo Hackert, Christopher Haiman, Patricia Hartge, Manal Hasan, Kathy J Helzlsouer, Joseph Herman, Ivana Holcatova, Elizabeth A Holly, Robert Hoover, Rayjean J Hung, Vladimir Janout, Eric A Klein, Robert C Kurtz, Daniel Laheru, I-Min Lee, Lingeng Lu, Núria Malats, Satu Mannisto, Roger L Milne, Ann L Oberg, Irene Orlow, Alpa V Patel, Ulrike Peters, Miquel Porta, Francisco X Real, Nathaniel Rothman, Howard D Sesso, Gianluca Severi, Debra Silverman, Oliver Strobel, Malin Sund, Mark D Thornquist, Geoffrey S Tobias, Jean Wactawski-Wende, Nick Wareham, Elisabete Weiderpass, Nicolas Wentzensen, William Wheeler, Herbert Yu, Anne Zeleniuch-Jacquotte, Peter Kraft, Donghui Li, Eric J Jacobs, Gloria M Petersen, Brian M Wolpin, Harvey A Risch, Laufey T Amundadottir, Kai Yu, Alison P Klein, Rachael Z Stolzenberg-Solomon
Feb 04, 2019
Association of Triglyceride-Lowering LPL Variants and LDL-C-Lowering LDLR Variants With Risk of Coronary Heart Disease.
Brian A Ference, John JP Kastelein, Kausik K Ray, Henry N Ginsberg, M John Chapman, Chris J Packard, Ulrich Laufs, Clare Oliver-Williams, Angela M Wood, Adam S Butterworth, Emanuele Di Angelantonio, John Danesh, Stephen J Nicholls, Deepak L Bhatt, Marc S Sabatine, Alberico L Catapano
Feb 11, 2019
Apolipoproteins B Case-Control Studies Cholesterol LDL Coronary Disease Female Genetic Predisposition to Disease genetic variation Humans Lipoprotein Lipase Loss of Function Mutation Male Mendelian Randomization Analysis Metabolic Networks and Pathways Middle Aged Prospective Studies Receptors LDL Risk Factors Triglycerides
The use of panel testing in familial breast and ovarian cancer.
Advances in sequencing technology have led to the introduction of panel testing in hereditary breast and ovarian cancer. While direct-to-consumer testing services have become widely available, the clinical validity of many of...
Breast Cancer gene panel genetic testing and hereditary cancer ovarian cancer AMP-Activated Protein Kinase Kinases Antigens CD Cadherins DNA-Binding Proteins Epithelial Cell Adhesion Molecule Female Genes BRCA1 Genes BRCA2 Genetic Predisposition to Disease Genetic Testing Hereditary Breast and Ovarian Cancer Syndrome High-Throughput Nucleotide Sequencing Humans Li-Fraumeni Syndrome Lynch Syndrome II MutL Protein Homolog 1 MutS Homolog 2 Protein PTEN Phosphohydrolase Peutz-Jeghers Syndrome Protein Serine-Threonine Kinases Sequence Analysis DNA Tumor Suppressor Protein p53
Serum magnesium levels and risk of coronary artery disease
Background. Observational studies have shown that serum magnesium levels are inversely associated risk of cardiovascular disease, but whether this association is causal is unknown. We conducted a Mendelian randomization study to...
Genomic correlates of glatiramer acetate adverse cardiovascular effects lead to a novel locus mediating coronary risk
Ingrid Brænne, Lingyao Zeng, Christina Willenborg, Vinicius Tragante, Thorsten Kessler, CARDIoGRAM consortium, CARDIoGRAMplusC4D Consortium, Cristen J Willer, Markku Laakso, Lars Wallentin, Paul W Franks, Veikko Salomaa, Abbas Dehghan, Thomas Meitinger, Nilesh J Samani, Folkert W Asselbergs, Jeanette Erdmann, Heribert Schunkert
Jan 25, 2018
NOX1 loss-of-function genetic variants in patients with inflammatory bowel disease.
T Schwerd, RV Bryant, S Pandey, M Capitani, L Meran, J-B Cazier, J Jung, K Mondal, M Parkes, CG Mathew, K Fiedler, DJ McCarthy, WGS500 Consortium, Oxford IBD cohort study investigators, COLORS in IBD group investigators, UK IBD Genetics Consortium, PB Sullivan, A Rodrigues, SPL Travis, C Moore, J Sambrook, WH Ouwehand, DJ Roberts, J Danesh, INTERVAL Study, RK Russell, DC Wilson, JR Kelsen, R Cornall, LA Denson, S Kugathasan, UG Knaus, EG Serra, CA Anderson, RH Duerr, D Pb McGovern, J Cho, F Powrie, V Sw Li, AM Muise, HH Uhlig
Feb 05, 2018
Genetic defects that affect intestinal epithelial barrier function can present with very early-onset inflammatory bowel disease (VEOIBD). Using whole-genome sequencing, a novel hemizygous defect in NOX1 encoding NAPDH oxidase 1...
Animals Child Child Preschool Colon Genes Modifier Genetic Association Studies Genetic Predisposition to Disease Genome Genotype High-Throughput Nucleotide Sequencing Host-Pathogen Interactions Humans Inflammatory Bowel Diseases Male Mice Mice Inbred C57BL Mutation Missense NADPH Oxidase 1 Polymorphism Single Nucleotide Reactive Oxygen Species
Genetic architecture of sporadic frontotemporal dementia and overlap with Alzheimer's and Parkinson's diseases.
Raffaele Ferrari, Yunpeng Wang, Jana Vandrovcova, Sebastian Guelfi, Aree Witeolar, Celeste M Karch, Andrew J Schork, Chun C Fan, James B Brewer, International FTD-Genomics Consortium (IFGC), International Parkinson's Disease Genomics Consortium (IPDGC), International Genomics of Alzheimer's Project (IGAP), Parastoo Momeni, Gerard D Schellenberg, William P Dillon, Leo P Sugrue, Christopher P Hess, Jennifer S Yokoyama, Luke W Bonham, Gil D Rabinovici, Bruce L Miller, Ole A Andreassen, Anders M Dale, John Hardy, Rahul S Desikan
Feb 06, 2018
BACKGROUND: Clinical, pathological and genetic overlap between sporadic frontotemporal dementia (FTD), Alzheimer's disease (AD) and Parkinson's disease (PD) has been suggested; however, the relationship between these disorders...
Risks of breast or ovarian cancer in BRCA1 or BRCA2 predictive test negatives
Fabio Girardi, Daniel R Barnes, Daniel Barrowdale, Debra Frost, Angela F Brady, Claire Miller, Alex Henderson, Alan Donaldson, Alex Murray, Carole Brewer, Caroline Pottinger, D Gareth Evans, Diana Eccles, EMBRACE, Fiona Lalloo, Helen Gregory, Jackie Cook, Jacqueline Eason, Julian Adlard, Julian Barwell, Kai Ren Ong, Lisa Walker, Louise Izatt, Lucy E Side, M John Kennedy, Marc Tischkowitz, Mark T Rogers, Mary E Porteous, Patrick J Morrison, Ros Eeles, Rosemarie Davidson, Katie Snape, Douglas F Easton, Antonis C Antoniou
Mar 16, 2018
PURPOSE: BRCA1/BRCA2 predictive test negatives are proven noncarriers of a BRCA1/BRCA2 mutation that is carried by their relatives. The risk of developing breast cancer (BC) or epithelial ovarian cancer (EOC) in these women is...
Genetic Predisposition to an Impaired Metabolism of the Branched-Chain Amino Acids and Risk of Type 2 Diabetes
LA Lotta, RA Scott, SJ Sharp, S Burgess, J Luan, T Tillin, AF Schmidt, F Imamura, ID Stewart, JRB Perry, L Marney, A Koulman, ED Karoly, NG Forouhi, RJO Sjögren, E Näslund, JR Zierath, A Krook, DB Savage, JL Griffin, N Chaturvedi, AD Hingorani, K-T Khaw, I Barroso, MI McCarthy, S O'Rahilly, NJ Wareham, C Langenberg
Jan 18, 2017
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