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Discovery of common and rare genetic risk variants for colorectal cancer
Authors :
Charles M. Connolly Deborah A. Nickerson Jian Gong Sébastien Küry Barbara Pardini Brent W. Zanke Andrea Gsur Jochen Hampe Coral Arnau-Collell M. Henar Alonso Elio Riboli Annika Lindblom Ulrike Peters Gad Rennert Tabitha A. Harrison Lori C. Sakoda Caroline McNeil Flavio Lejbkowicz Hyun Min Kang David J. Hunter Martha L. Slattery Miguel Rodríguez-Barranco Christina Bamia Satu Männistö Timothy J. Key W. James Gauderman Gonçalo R. Abecasis Sanford D. Markowitz Laurence N. Kolonel Mark A. Jenkins Yi Lin Robin Myte Hedy S. Rennert Neil Murphy Antonia Trichopoulou Christopher I. Li Ross L. Prentice Sai Chen Stephanie J. Weinstein Kristin E. Anderson Hua Ling Mitul Shah Philipp Hofer Wen Yi Huang Sergi Castellví-Bel Susanna C. Larsson Maria Dolores Chirlaque Wei Zheng Stephanie L. Schmit Cecelia A. Laurie Soo-Chin Lee David Forman Andrea N. Burnett-Hartman Giovanna Masala Sarah C. Nelson Michael O. Woods Charles Kooperberg Qing Zhang Sonja I. Berndt Christopher S. Carlson Katja Butterbach Hyeong Rok Kim Rebecca D. Jackson David Van Den Berg Michael C. Bassik Amanda J. Cross Sushma S. Thomas Clemens Schafmayer Anna H. Wu Douglas F. Easton Robert W. Haile Ludmila Vodickova Graham G. Giles Yu Ru Su Jenny Chang-Claude Lorena Moreno Peter C. Scacheri Stefanie Brezina Min-Ho Shin Steven Gallinger Bethany Van Guelpen Daniel D. Buchanan Roger L. Milne Stephen J. Chanock Tin Louie Tameka Shelford Emily White Kala Visvanathan Loic Le Marchand Veronika Vymetalkova Roxann G. Ingersoll Temitope O. Keku Stephanie A. Bien Fredrick R. Schumacher Wan-Ling Hsu Amanda E. Toland John S. Grove Noralane M. Lindor Faye Elliott Leon Raskin Heather Hampel Joshua D. Smith Vicente Martín David V. Conti Sjoerd G. Elias Henk J. van Kranen Manish Gala Daniela Seminara Syed H.E. Zaidi Suzanne M. Leal Tilman Kühn Korbinian Weigl Marc J. Gunter Cornelia M. Ulrich Peyton Greenside Victor Moreno John D. Potter Michael Hoffmeister Eric J. Jacobs Catherine M. Tangen Jihyoun Jeon Fränzel J.B. Van Duijnhoven Andrew T. Chan Stephen B. Gruber John A. Baron Alicja Wolk Edith J. M. Feskens Demetrius Albanes Amit Joshi Bette J. Caan Polly A. Newcomb Stéphane Bézieau Elizabeth M. Gillanders Anshul Kundaje Elizabeth A. Platz Michael Wainberg Sun-Seog Kweon C. Roland Wolf Gemma Ibáñez-Sanz Shuji Ogino Emiko Kobayashi Richard B. Hayes Patrick S. Parfrey Katarina Cuk Stephen N. Thibodeau Kenneth Offit David Duggan Sophia Harlid Pavel Vodicka Juergen Boehm Christa Stegmaier Jeroen R. Huyghe Joseph Vijai Sang-Hee Cho Elizabeth W. Pugh Rachel Pearlman Alessio Naccarati Marilena Melas Graham Casey Jane Romm Stephan Buch Phyllis J. Goodman Albert de la Chapelle John L. Hopper Zsofia K. Stadler Corinne E. Joshu Liesel M. FitzGerald Wolfgang Lieb Aung Ko Win Keith R. Curtis Hermann Brenner Christopher K. Edlund Li Hsu Conghui Qu Peter T. Campbell Robert E. Schoen Heiner Boeing D. Timothy Bishop Kimberly F. Doheny Sabina Sieri Barbara L. Banbury Mathieu Lemire Jane C. Figueiredo Gregory Idos Katerina Shulman Thomas J. Hudson Melissa C. Southey Duncan C. Thomas Paul D.P. Pharoah Mila Pinchev Vittorio Perduca Rocky Fischer Volker Arndt William M. Grady Nasa Sinnott-Armstrong N. Charlotte Onland-Moret David M. Levine Li Li Dallas R. English Health Research Board - Ireland Department of Medical Genetics HMNC Brain Health Case Western Reserve University [Cleveland] National Cancer Institute, NIH Division of Clinical Epidemiology and Aging Research German Cancer Research Center - Deutsches Krebsforschungszentrum [Heidelberg] (DKFZ) WHO Collaborating Center for Food and Nutrition Policies, Department of Hygiene Epidemiology and Medical Statistics, University of Athens Medical School National Cancer Institute [Bethesda] (NCI-NIH) National Institutes of Health [Bethesda] (NIH) Service de Génétique Centre hospitalier universitaire de Nantes (CHU Nantes) Department of Epidemiology German Institute of Human Nutrition Potsdam-Rehbruecke Division of Cancer Epidemiology Cancer Genome Project The Wellcome Trust Sanger Institute [Cambridge] Division of Signaling Biology Ontario Cancer Institute Consorcio de Investigación Biomédica en Red especializado en Epidemiología y Salud Pública (CIBERESP) Los Centros de Investigación Biomédica en Red (CIBER) National Institute of Standards and Technology [Gaithersburg] (NIST) Ohio State University [Columbus] (OSU) Centre for Cancer Genetic Epidemiology University of Cambridge [UK] (CAM) Section of Epidemiology and Biostatistics Leeds Institute of Molecular Medicine Cancer Epidemiology Centre Cancer Council Victoria Division of Human Nutrition Wageningen University and Research [Wageningen] (WUR) Division of Public Health Sciences Fred Hutchinson Cancer Research Center [Seattle] (FHCRC) Northern and Yorkshire Cancer Registry and Information Service Familial Gastrointestinal Cancer Registry Mount Sinai Hospital [Toronto, Canada] (MSH) University of Melbourne Nutrition and Metabolism Section International Agency for Cancer Research (IACR) Department of Internal Medicine I University Hospital Schleswig-Holstein, Campus Kiel London School of Hygiene and Tropical Medicine (LSHTM) Fraunhofer Institute for Manufacturing Engineering and Automation (Fraunhofer IPA) Fraunhofer (Fraunhofer-Gesellschaft) Centre for Molecular , Environmental, Genetic and Analytic (MEGA) Epidemiology University of Melbourne-Centre for Molecular, Melbourne School of Population Health Department of Mathematics, University of Warwick Warwick Mathematics Institute (WMI) University of Warwick [Coventry]-University of Warwick [Coventry] Department of Statistics, Penn State University University of Pennsylvania [Philadelphia] Tata Memorial Centre Cancer Epidemiology Unit University of Oxford [Oxford] Thermo Fisher Scientific Thermo Fisher Scientific Inc. Department of Molecular and Human Genetics Baylor College of Medicine (BCM) Baylor University-Baylor University National University Health System Department of Community Medicine and Epidemiology CHS National Cancer Control Center Ontario Institute for Cancer Research [Canada] (OICR) Ontario Institute for Cancer Research Laboratoire de Génie Electrique de Grenoble (G2ELab) Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019]) Chronic Disease Epidemiology and Prevention Unit National Institute for Health and Welfare [Helsinki] Dell-EMC Molecular and Nutritional Epidemiology Unit (ISPO) Cancer Research and Prevention Institute Clinical Genetics Service Memorial Sloane Kettering Cancer Center [New York] Department of Pathology Brigham and Women's Hospital [Boston] University Medical Center [Utrecht] Mathématiques Appliquées Paris 5 (MAP5 - UMR 8145) Université Paris Descartes - Paris 5 (UPD5)-Institut National des Sciences Mathématiques et de leurs Interactions (INSMI)-Centre National de la Recherche Scientifique (CNRS) Department of Oncology Department of Epidemiology and Biostatistics Imperial College London Department of Visceral and Thoracic Surgery [Kiel, Germany] University Hospital Schleswig-Holstein [Kiel, Germany] Nutritional Epidemiology Unit Fondazione IRCCS Istituto Nazionale dei Tumori entre for Molecular, Environmental, Genetic and Analytic (MEGA) Epidemiology Department of Laboratory Medicine and Department of Pathology Mayo Clinic College of Medicine Department of Molecular Virology, Immunology and Medical Genetics [Colombus] Ohio State University [Columbus] (OSU)-College of Medicine and Public Health [Colombus] Department of Hygiene, Epidemiology and Medical Statistics University of Athens Medical School [Athens] Department of Medical Biosciences and Pathology Umeå University Institute of Experimental Medicine Czech Academy of Sciences [Prague] (CAS) Dundee Technopole CXR Biosciences Ltd Karolinska Institutet [Stockholm] CINTRA / SEEE Nanyang Technological University Nanyang Technological University [Singapour] Center for Astrophysical Sciences [Baltimore] Johns Hopkins University (JHU) Computer Science and Artificial Intelligence Laboratory (CSAIL) Massachusetts Institute of Technology (MIT) Department of Preventive Medicine University of Southern California (USC) Biomedical Research Centre Network for Rare Diseases CIBER de Enfermedades Raras (CIBERER) Medstar Research Institute Department of Genome Sciences [Seattle] (GS) University of Washington [Seattle] Department of Internal Medicine, Epidemiology, Human Genetics University of Michigan [Ann Arbor] University of Michigan System-University of Michigan System Wageningen University and Research Centre [Wageningen] (WUR) Mount Sinai Hospital (MSH) Fraunhofer Institute for Manufacturing Engineering and Automation [Stuttgart] (IPA) Université Joseph Fourier - Grenoble 1 (UJF)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP)-Institut Polytechnique de Grenoble - Grenoble Institute of Technology-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA) Czech Academy of Sciences [Prague] (ASCR) Huyghe, Jeroen R [0000-0001-6027-9806] Harrison, Tabitha A [0000-0002-4173-7530] Chen, Sai [0000-0003-3106-5643] Schmit, Stephanie L [0000-0001-5931-1194] Jeon, Jihyoun [0000-0001-7003-3412] Schumacher, Fredrick R [0000-0002-3073-7463] Nelson, Sarah C [0000-0002-2109-6465] Sinnott-Armstrong, Nasa A [0000-0003-4490-0601] Alonso, M Henar [0000-0003-0285-5451] Arndt, Volker [0000-0001-9320-8684] Bézieau, Stéphane [0000-0003-0095-1319] Bishop, D Timothy [0000-0002-8752-8785] Brezina, Stefanie [0000-0001-5238-6900] Buchanan, Daniel D [0000-0003-2225-6675] Chanock, Stephen J [0000-0002-2324-3393] de la Chapelle, Albert [0000-0001-9345-9248] Easton, Douglas F [0000-0003-2444-3247] Hampe, Jochen [0000-0002-2421-6127] Hayes, Richard B [0000-0002-0918-661X] Hofer, Philipp [0000-0003-2550-6019] Huang, Wen-Yi [0000-0002-4440-3368] Hudson, Thomas J [0000-0002-1376-4849] Jacobs, Eric J [0000-0002-8458-7659] Jenkins, Mark A [0000-0002-8964-6160] Joshi, Amit D [0000-0001-7581-6934] Küry, Sébastien [0000-0001-5497-0465] Larsson, Susanna C [0000-0003-0118-0341] Laurie, Cecelia A [0000-0001-6569-2501] Martín, Vicente [0000-0003-0552-2804] Masala, Giovanna [0000-0002-5758-9069] Milne, Roger L [0000-0001-5764-7268] Naccarati, Alessio [0000-0001-5774-0905] Newcomb, Polly A [0000-0001-8786-0043] Pardini, Barbara [0000-0001-9571-4257] Perduca, Vittorio [0000-0003-0339-0473] Pharoah, Paul DP [0000-0001-8494-732X] Raskin, Leon [0000-0003-1195-7214] Rennert, Gad [0000-0002-8512-068X] Shin, Min-Ho [0000-0002-2217-5624] Toland, Amanda E [0000-0002-0271-1792] Vijai, Joseph [0000-0002-7933-151X] Weigl, Korbinian [0000-0003-4453-2036] Win, Aung Ko [0000-0002-2794-5261] Wolk, Alicja [0000-0001-7387-6845] Zheng, Wei [0000-0003-1226-070X] Bassik, Michael C [0000-0001-5185-8427] Moreno, Victor [0000-0002-2818-5487] Peters, Ulrike [0000-0001-5666-9318] Apollo - University of Cambridge Repository
Source :
Dipòsit Digital de la UB, Universidad de Barcelona, Nature genetics, Nature Genetics, 51, 76-87, Nature Genetics, Nature Genetics, Nature Publishing Group, 2019, 51 (1), pp.76-87. ⟨10.1038/s41588-018-0286-6⟩, Nature Genetics, 51(1), 76. Nature Publishing Group, Nature Genetics 51 (2018)
Publication Year :
2018
Publisher :
Springer Science and Business Media LLC, 2018.
Abstract
To further dissect the genetic architecture of colorectal cancer (CRC), we performed whole-genome sequencing of 1,439 cases and 720 controls, imputed discovered sequence variants and Haplotype Reference Consortium panel variants into genome-wide association study data, and tested for association in 34,869 cases and 29,051 controls. Findings were followed up in an additional 23,262 cases and 38,296 controls. We discovered a strongly protective 0.3% frequency variant signal at CHD1. In a combined meta-analysis of 125,478 individuals, we identified 40 new independent signals at P<br />Reporting Summary. Further information on experimental design is available in the Life Sciences Reporting Summary linked to this article.
Details
ISSN :
15461718 and 10614036
Volume :
51
Database :
OpenAIRE
Journal :
Nature Genetics
Accession number :
edsair.doi.dedup.....cb2446d3d49b6ebc7aeb6ee8125c93da