Genome-wide asociation study and meta-analysis in Northrn European populations replicate multiple colorectal cancer risk loci: GWAS and meta-analysis of CRC

Tomas Tanskanen, Linda M van den Berg, Niko Välimäki, Mervi Aavikko, Eivind Ness-Jensen, Kristian Hveem, Yvonne Wettergen, Elinor Bexe Lindskog, Neeme Tonisson, Andres Metspalu, Kaisa Silander, Giulia Orlando, Philip J Law, Sari Tuupanen, Alexandra Gylfe, Ulrika A. Hanninen, Tatiana Cajuso, Johanna Kondelin, Antti-Pekka Sarin, Eero PukkalaPekka Jousilahti, Veikko Salomaa, Samuli Ripatti, Aarno Palotie, Heikki Järvinen, Laura Renkonen-Sinisalo, Anna Lepisto, Jan Bohm, Jukka-Pekka Mecklin, Nada A. Al-Tassan, Claire Palles, Lynn Martin, E. Barclay, Albert Tenesa, Susan Farrington, Maria Timofeeva, Brian F. Meyer, Salma M. Wakil, Harry Campbell, Christopher G Smith, Shelley Idziaszczyk, Timothy Maughan, Richard Kaplan, Rachel Kerr, David Kerr, Daniel D. Buchanan, Aung K. Win, John L Hopper, Mark C Jenkins, Polly Newcomb, Steve Gallinger, David Conti, Fred Schumacher, Graham Casey, Jeremy P Cheadle, Malcolm Dunlop, Ian P M Tomlinson, Richard S Houlston, Kimmo Palin, Lauri A Aaltonen

Research output: Contribution to journalArticlepeer-review


Genome-wide association studies have been successful in elucidating the genetic basis of colorectal cancer, but there remains unexplained variability in genetic risk. To identify new risk variants and to confirm reported associations, we conducted a genome-wide association study in 1,701 colorectal cancer cases and 14,082 cancer-free controls from the Finnish population. A total of 9,068,015 genetic variants were imputed and tested, and 30 promising variants were studied in additional 11,647 cases and 12,356 controls of European ancestry. The previously reported association between the single-nucleotide polymorphism rs992157 (2q35) and colorectal cancer was independently replicated (p=2.08x10-4; OR, 1.14; 95% CI, 1.06-1.23), and it was genome-wide significant in combined analysis (p=1.50x10-9; OR, 1.12; 95% CI, 1.08-1.16). Variants at 2q35, 6p21.2, 8q23.3, 8q24.21, 10q22.3, 10q24.2, 11q13.4, 11q23.1, 14q22.2, 15q13.3, 18q21.1, 20p12.3, and 20q13.33 were associated with colorectal cancer in the Finnish population (false discovery rate <0.1), but new risk loci were not found. These results replicate the effects of multiple loci on the risk of colorectal cancer and identify shared risk alleles between the Finnish population isolate and outbred populations.
Original languageEnglish
Pages (from-to)540-546
JournalInternational Journal of Cancer
Issue number3
Early online date28 Sep 2017
Publication statusPublished - 28 Sep 2017


  • colorectal cancer
  • genetic predisposition to disease
  • genome-wide association study
  • single-nucleotide polymorphism

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