Association analyses identify 31 new risk loci for colorectal cancer susceptibility

Philip J. Law, Maria Timofeeva, Ceres Fernandez-Rozadilla, Peter Broderick, James Studd, Juan Fernandez-Tajes, Susan Farrington, Victoria Svinti, Claire Palles, Giulia Orlando, Amit Sud, Amy Holroyd, Steven Penegar, Evropi Theodoratou, Peter Vaughan-Shaw, Harry Campbell, Lina Zgaga, Caroline Hayward, Archie Campbell, Sarah Harris, Ian J. Deary, John Starr, Laura Gatcombe, Maria Pinna, Sarah Briggs, Lynn Martin, Emma Jaeger, Archana Sharma-Oates, James East, Simon Leedham, Roland Arnold, Elaine Johnstone, Haitao Wang, David Kerr, Rachel Kerr, Tim Maughan, Richard Kaplan, Nada Al-Tassan, Kimmo Palin, Ulrika A. Hänninen, Tatiana Cajuso, Tomas Tanskanen, Johanna Kondelin, Eevi Kaasinen, Antti-Pekka Sarin, Johan G. Eriksson, Harri Rissanen, Paul Knekt, Eero Pukkala, Pekka Jousilahti, Veikko Salomaa, Samuli Ripatti, Aarno Palotie, Laura Renkonen-Sinisalo, Anna Lepistö, Jan Böhm, Jukka-Pekka Mecklin, Daniel D. Buchanan, Aung-Ko Win, John Hopper, Mark E. Jenkins, Noralane M. Lindor, Polly A. Newcomb, Steven Gallinger, David Duggan, Graham Casey, Per Hoffmann, Markus M. Nöthen, Karl-Heinz Jöckel, Douglas F. Easton, Paul D. P. Pharoah, Julian Peto, Federico Canzian, Anthony Swerdlow, Rosalind A. Eeles, Zsofia Kote-Jarai, Kenneth Muir, Nora Pashayan, Andrea Harkin, Karen Allan, John McQueen, James Paul, Timothy Iveson, Mark Saunders, Katja Butterbach, Jenny Chang-Claude, Michael Hoffmeister, Hermann Brenner, Iva Kirac, Petar Matošević, Philipp Hofer, Stefanie Brezina, Andrea Gsur, Jeremy P. Cheadle, Lauri A. Aaltonen, Ian Tomlinson, Richard S. Houlston () and Malcolm G. Dunlop
Additional contact information
Philip J. Law: The Institute of Cancer Research
Maria Timofeeva: University of Edinburgh
Ceres Fernandez-Rozadilla: Instituto de Investigación de Santiago
Peter Broderick: The Institute of Cancer Research
James Studd: The Institute of Cancer Research
Juan Fernandez-Tajes: McCarthy Group
Susan Farrington: University of Edinburgh
Victoria Svinti: University of Edinburgh
Claire Palles: University of Birmingham
Giulia Orlando: The Institute of Cancer Research
Amit Sud: The Institute of Cancer Research
Amy Holroyd: The Institute of Cancer Research
Steven Penegar: The Institute of Cancer Research
Evropi Theodoratou: University of Edinburgh
Peter Vaughan-Shaw: University of Edinburgh
Harry Campbell: University of Edinburgh
Lina Zgaga: University of Edinburgh
Caroline Hayward: University of Edinburgh
Archie Campbell: University of Edinburgh
Sarah Harris: University of Edinburgh
Ian J. Deary: University of Edinburgh
John Starr: University of Edinburgh
Laura Gatcombe: University of Birmingham
Maria Pinna: University of Birmingham
Sarah Briggs: University of Birmingham
Lynn Martin: University of Birmingham
Emma Jaeger: University of Birmingham
Archana Sharma-Oates: University of Birmingham
James East: University of Oxford, John Radcliffe Hospital
Simon Leedham: McCarthy Group
Roland Arnold: University of Birmingham
Elaine Johnstone: University of Oxford
Haitao Wang: University of Oxford
David Kerr: University of Oxford
Rachel Kerr: University of Oxford
Tim Maughan: University of Oxford
Richard Kaplan: Medical Research Council Clinical Trials Unit
Nada Al-Tassan: King Faisal Specialist Hospital and Research Center
Kimmo Palin: University of Helsinki
Ulrika A. Hänninen: University of Helsinki
Tatiana Cajuso: University of Helsinki
Tomas Tanskanen: University of Helsinki
Johanna Kondelin: University of Helsinki
Eevi Kaasinen: University of Helsinki
Antti-Pekka Sarin: University of Helsinki
Johan G. Eriksson: Folkhälsan Research Centre
Harri Rissanen: National Institute for Health and Welfare
Paul Knekt: National Institute for Health and Welfare
Eero Pukkala: University of Tampere
Pekka Jousilahti: National Institute for Health and Welfare
Veikko Salomaa: National Institute for Health and Welfare
Samuli Ripatti: University of Helsinki
Aarno Palotie: University of Helsinki
Laura Renkonen-Sinisalo: Helsinki University Hospital
Anna Lepistö: Helsinki University Hospital
Jan Böhm: Central Finland Central Hospital
Jukka-Pekka Mecklin: Jyväskylä Central Hospital
Daniel D. Buchanan: The University of Melbourne
Aung-Ko Win: The University of Melbourne
John Hopper: The University of Melbourne
Mark E. Jenkins: The University of Melbourne
Noralane M. Lindor: Mayo Clinic
Polly A. Newcomb: Fred Hutchinson Cancer Research Center
Steven Gallinger: Lunenfeld-Tanenbaum Research Institute
David Duggan: Translational Genomics Research Institute (TGen), An Affiliate of City of Hope
Graham Casey: University of Virginia
Per Hoffmann: University of Basel
Markus M. Nöthen: University of Bonn
Karl-Heinz Jöckel: University of Duisburg-Essen
Douglas F. Easton: University of Cambridge
Paul D. P. Pharoah: University of Cambridge
Julian Peto: London School of Hygiene and Tropical Medicine
Federico Canzian: German Cancer Research Center (DKFZ)
Anthony Swerdlow: The Institute of Cancer Research
Rosalind A. Eeles: The Institute of Cancer Research
Zsofia Kote-Jarai: The Institute of Cancer Research
Kenneth Muir: University of Manchester
Nora Pashayan: University College London
Andrea Harkin: University of Glasgow
Karen Allan: University of Glasgow
John McQueen: University of Glasgow
James Paul: University of Glasgow
Timothy Iveson: University Hospital Southampton NHS Foundation Trust
Mark Saunders: The Christie NHS Foundation Trust
Katja Butterbach: Deutsches Krebsforschungszentrum
Jenny Chang-Claude: German Cancer Research Center (DKFZ)
Michael Hoffmeister: Deutsches Krebsforschungszentrum
Hermann Brenner: Deutsches Krebsforschungszentrum
Iva Kirac: Sestre milosrdnice University Hospital Centre
Petar Matošević: University Hospital Center Zagreb
Philipp Hofer: Medical University of Vienna
Stefanie Brezina: Medical University of Vienna
Andrea Gsur: Medical University of Vienna
Jeremy P. Cheadle: Cardiff University
Lauri A. Aaltonen: University of Helsinki
Ian Tomlinson: University of Birmingham
Richard S. Houlston: The Institute of Cancer Research
Malcolm G. Dunlop: University of Edinburgh

Nature Communications, 2019, vol. 10, issue 1, 1-15

Abstract: Abstract Colorectal cancer (CRC) is a leading cause of cancer-related death worldwide, and has a strong heritable basis. We report a genome-wide association analysis of 34,627 CRC cases and 71,379 controls of European ancestry that identifies SNPs at 31 new CRC risk loci. We also identify eight independent risk SNPs at the new and previously reported European CRC loci, and a further nine CRC SNPs at loci previously only identified in Asian populations. We use in situ promoter capture Hi-C (CHi-C), gene expression, and in silico annotation methods to identify likely target genes of CRC SNPs. Whilst these new SNP associations implicate target genes that are enriched for known CRC pathways such as Wnt and BMP, they also highlight novel pathways with no prior links to colorectal tumourigenesis. These findings provide further insight into CRC susceptibility and enhance the prospects of applying genetic risk scores to personalised screening and prevention.

Date: 2019
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DOI: 10.1038/s41467-019-09775-w

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