Publication Type | Journal Article |
Year of Publication | 2018 |
Authors | Tanskanen, T, van den Berg, L, Välimäki, N, Aavikko, M, Ness-Jensen, E, Hveem, K, Wettergren, Y, Lindskog, EBexe, Tõnisson, N, Metspalu, A, Silander, K, Orlando, G, Law, PJ, Tuupanen, S, Gylfe, AE, Hänninen, UA, Cajuso, T, Kondelin, J, Sarin, A-P, Pukkala, E, Jousilahti, P, Salomaa, V, Ripatti, S, Palotie, A, Järvinen, H, Renkonen-Sinisalo, L, Lepistö, A, Böhm, J, Mecklin, J-P, Al-Tassan, NA, Palles, C, Martin, L, Barclay, E, Tenesa, A, Farrington, SM, Timofeeva, MN, Meyer, BF, Wakil, SM, Campbell, H, Smith, CG, Idziaszczyk, S, Maughan, TS, Kaplan, R, Kerr, R, Kerr, D, Buchanan, DD, Win, AK, Hopper, J, Jenkins, MA, Newcomb, PA, Gallinger, S, Conti, D, Schumacher, FR, Casey, G, Cheadle, JP, Dunlop, MG, Tomlinson, IP, Houlston, RS, Palin, K, Aaltonen, LA |
Journal | Int J Cancer |
Volume | 142 |
Issue | 3 |
Pages | 540-546 |
Date Published | 2018 02 01 |
ISSN | 1097-0215 |
Keywords | Case-Control Studies, Cohort Studies, Colorectal Neoplasms, Estonia, Finland, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Polymorphism, Single Nucleotide, Registries |
Abstract | Genome-wide association studies have been successful in elucidating the genetic basis of colorectal cancer (CRC), 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 CRC 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 (SNP) rs992157 (2q35) and CRC was independently replicated (p = 2.08 × 10 ; OR, 1.14; 95% CI, 1.06-1.23), and it was genome-wide significant in combined analysis (p = 1.50 × 10 ; 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 CRC 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 CRC and identify shared risk alleles between the Finnish population isolate and outbred populations. |
DOI | 10.1002/ijc.31076 |
Pubmed | |
Alternate Journal | Int. J. Cancer |
PubMed ID | 28960316 |
PubMed Central ID | PMC6383773 |
Grant List | G1001799 / / Medical Research Council / United Kingdom U01 CA074799 / CA / NCI NIH HHS / United States MC_PC_U127527198 / / Medical Research Council / United Kingdom U24 CA074783 / CA / NCI NIH HHS / United States U24 CA074794 / CA / NCI NIH HHS / United States MR/K014781/1 / / Medical Research Council / United Kingdom U24 CA074806 / CA / NCI NIH HHS / United States U24 CA097735 / CA / NCI NIH HHS / United States U01 CA074794 / CA / NCI NIH HHS / United States MR/N01104X/1 / / Medical Research Council / United Kingdom U01 CA167551 / CA / NCI NIH HHS / United States R01 CA143237 / CA / NCI NIH HHS / United States MR/K018647/1 / / Medical Research Council / United Kingdom MC_UU_12023/3 / / Medical Research Council / United Kingdom 13154 / / Cancer Research UK / United Kingdom U01 CA097735 / CA / NCI NIH HHS / United States UM1 CA167551 / CA / NCI NIH HHS / United States U01 CA122839 / CA / NCI NIH HHS / United States U01 CA074783 / CA / NCI NIH HHS / United States U24 CA074799 / CA / NCI NIH HHS / United States U01 CA074806 / CA / NCI NIH HHS / United States U24 CA074800 / CA / NCI NIH HHS / United States U01 CA074800 / CA / NCI NIH HHS / United States U19 CA148107 / CA / NCI NIH HHS / United States |
Int J Cancer DOI:10.1002/ijc.31076
Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci.
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