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Association analyses identify 31 new risk loci for colorectal cancer susceptibility

Research output: Contribution to journalArticle

  • Philip J Law
  • Ceres Fernandez-Rozadilla
  • Peter Broderick
  • James B Studd
  • Juan Fernandez-Tajes
  • Claire Palles
  • Giulia Orlando
  • Amit Sud
  • Holroyd Amy
  • Steven Penegar
  • Lina Zgaga
  • Gatcombe Laura
  • 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 A. Al-Tassan
  • Kimmo Palin
  • Ulrika A. Hanninen
  • Tatiana Cajuso
  • Tomas Tanskanen
  • Johanna Kondelin
  • Eevi Kaasinen
  • Antti-Pekka Sarin
  • Johan Eriksson
  • Harri Rissanen
  • Paul Knekt
  • Eero Pukkala
  • Pekka Jousilahti
  • Veikko Salomaa
  • Samuli Ripatti
  • Aarno Palotie
  • Laura Renkonen-Sinisalo
  • Anna Lepisto
  • Jan Böhm
  • Jukka-Pekka Mecklin
  • Daniel Buchanan
  • Aung Ko Win
  • John L Hopper
  • Mark C Jenkins
  • Noralane M. Lindor
  • Polly A Newcomb
  • Steve Gallinger
  • David Duggan
  • Graham Casey
  • Per Hoffman
  • Markus M Nöthen
  • Karl-Heinz Jöckel
  • Douglas F. Easton
  • Paul D P Pharoah
  • Julian Peto
  • Federico Canzian
  • Anthony J. Swerdlow
  • Rosalind A Eeles
  • Zsofia Kote-Jarai
  • Kenneth R. Muir
  • Nora Pashayan
  • Andrea Harkin
  • Karen Allan
  • John McQueen
  • James Paul
  • Tim Iveson
  • Mark N. K. Saunders
  • Katja Butterbach
  • Jenny Chang-Claude
  • Michael Hoffmeister
  • Hermann Brenner
  • Iva Kirac
  • Petar Matošević
  • Philipp Hofer
  • Stefanie Brezina
  • Andrea Gsur
  • Jeremy Cheadle
  • Lauri Aaltonen
  • Richard S Houlston

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Original languageEnglish
JournalNature Communications
Publication statusPublished - 14 May 2019


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.

    Research areas

  • cancer genetics, cancer genomics, colorectal cancer, genome-wide association studies

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