Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci
| Autor: | Fredrick R. Schumacher, Pekka Jousilahti, Antti-Pekka Sarin, Veikko Salomaa, Heikki Järvinen, Salma M. Wakil, Anna Lepistö, Jukka-Pekka Mecklin, Graham Casey, Jan Böhm, Tim Maughan, Ian Tomlinson, Ella Barclay, Lauri A. Aaltonen, Ulrika A. Hänninen, Harry Campbell, Niko Välimäki, Aung Ko Win, Alexandra E. Gylfe, David V. Conti, Tomas Tanskanen, Jeremy Peter Cheadle, Albert Tenesa, Nada Al-Tassan, Eivind Ness-Jensen, Linda van den Berg, David J. Kerr, Samuli Ripatti, Steve Gallinger, Daniel D. Buchanan, Claire Palles, Eero Pukkala, Elinor Bexe Lindskog, Rachel Kerr, Lynn Martin, Susan M. Farrington, Richard Kaplan, Kaisa Silander, Shelley Idziaszczyk, Andres Metspalu, Tatiana Cajuso, Mark A. Jenkins, Sari Tuupanen, Laura Renkonen-Sinisalo, Kristian Hveem, Brian F. Meyer, Mervi Aavikko, Polly A. Newcomb, Malcolm G. Dunlop, Aarno Palotie, Neeme Tõnisson, Kimmo Palin, Yvonne Wettergren, John L. Hopper, Giulia Orlando, Christopher Smith, Philip J. Law, Maria Timofeeva, Richard S. Houlston, Johanna Kondelin |
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| Rok vydání: | 2017 |
| Předmět: |
genetic predisposition to disease
0301 basic medicine Genetics Cancer Research genome-wide association study Case-control study colorectal cancer Single-nucleotide polymorphism Genome-wide association study single-nucleotide polymorphism Biology 3. Good health 03 medical and health sciences 030104 developmental biology 0302 clinical medicine Oncology 030220 oncology & carcinogenesis Meta-analysis SNP Imputation (genetics) Genetic association Cohort study |
| Zdroj: | Tanskanen, T, van den Berg, L M, Välimäki, N, Aavikko, M, Ness-Jensen, E, Hveem, K, Wettergen, Y, Bexe Lindskog, E, Tonisson, N, Metspalu, A, Silander, K, Orlando, G, Law, P J, Tuupanen, S, Gylfe, A, Hanninen, U A, Cajuso, T, Kondelin, J, Sarin, A-P, Pukkala, E, Jousilahti, P, Salomaa, V, Ripatti, S, Palotie, A, Järvinen, H, Renkonen-Sinisalo, L, Lepisto, A, Bohm, J, Mecklin, J-P, Al-Tassan, N A, Palles, C, Martin, L, Barclay, E, Tenesa, A, Farrington, S, Timofeeva, M, Meyer, B F, Wakil, S M, Campbell, H, Smith, C G, Idziaszczyk, S, Maughan, T, Kaplan, R, Kerr, R, Kerr, D, Buchanan, D D, Win, A K, Hopper, J L, Jenkins, M C, Newcomb, P, Gallinger, S, Conti, D, Schumacher, F, Casey, G, Cheadle, J P, Dunlop, M, Tomlinson, I P M, Houlston, R S, Palin, K & Aaltonen, L A 2017, ' Genome-wide asociation study and meta-analysis in Northrn European populations replicate multiple colorectal cancer risk loci : GWAS and meta-analysis of CRC ', International Journal of Cancer, vol. 142, no. 3, pp. 540-546 . https://doi.org/10.1002/ijc.31076 |
| ISSN: | 0020-7136 |
| Popis: | 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 |
| Databáze: | OpenAIRE |
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