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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