Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci

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Tanskanen , T , van den Berg , L , Valimaki , N , Aavikko , M , Ness-Jensen , E , Hveem , K , Wettergren , Y , Lindskog , E B , Tonisson , N , Metspalu , A , Silander , K , Orlando , G , Law , P J , Tuupanen , S , Gylfe , A E , Hanninen , U A , Cajuso , T , Kondelin , J , Sarin , A-P , Pukkala , E , Jousilahti , P , Salomaa , V , Ripatti , S , Palotie , A , Jarvinen , 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 M , Timofeeva , M N , Meyer , B F , Wakil , S M , Campbell , H , Smith , C G , Idziaszczyk , S , Maughan , T S , Kaplan , R , Kerr , R , Kerr , D , Buchanan , D D , Win , A K , Hopper , J , Jenkins , M A , Newcomb , P A , Gallinger , S , Conti , D , Schumacher , F R , Casey , G , Cheadle , J P , Dunlop , M G , Tomlinson , I P , Houlston , R S , Palin , K & Aaltonen , L A 2018 , ' Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci ' , International Journal of Cancer , vol. 142 , no. 3 , pp. 540-546 .

Title: Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci
Author: Tanskanen, Tomas; van den Berg, Linda; Valimaki, Niko; Aavikko, Mervi; Ness-Jensen, Eivind; Hveem, Kristian; Wettergren, Yvonne; Lindskog, Elinor Bexe; Tonisson, Neeme; Metspalu, Andres; Silander, Kaisa; Orlando, Giulia; Law, Philip J.; Tuupanen, Sari; Gylfe, Alexandra E.; Hanninen, Ulrika A.; Cajuso, Tatiana; Kondelin, Johanna; Sarin, Antti-Pekka; Pukkala, Eero; Jousilahti, Pekka; Salomaa, Veikko; Ripatti, Samuli; Palotie, Aarno; Jarvinen, Heikki; Renkonen-Sinisalo, Laura; Lepisto, Anna; Bohm, Jan; Mecklin, Jukka-Pekka; Al-Tassan, Nada A.; Palles, Claire; Martin, Lynn; Barclay, Ella; Tenesa, Albert; Farrington, Susan M.; Timofeeva, Maria N.; Meyer, Brian F.; Wakil, Salma M.; Campbell, Harry; Smith, Christopher G.; Idziaszczyk, Shelley; Maughan, Tim S.; Kaplan, Richard; Kerr, Rachel; Kerr, David; Buchanan, Daniel D.; Win, Aung K.; Hopper, John; Jenkins, Mark A.; Newcomb, Polly A.; Gallinger, Steve; Conti, David; Schumacher, Fredrick R.; Casey, Graham; Cheadle, Jeremy P.; Dunlop, Malcolm G.; Tomlinson, Ian P.; Houlston, Richard S.; Palin, Kimmo; Aaltonen, Lauri A.
Contributor organization: Research Programs Unit
Lauri Antti Aaltonen / Principal Investigator
Genome-Scale Biology (GSB) Research Program
Department of Medical and Clinical Genetics
University of Helsinki
Institute for Molecular Medicine Finland
Samuli Olli Ripatti / Principal Investigator
Biostatistics Helsinki
Aarno Palotie / Principal Investigator
Heikki Järvinen / Principal Investigator
Department of Surgery
II kirurgian klinikka
Centre of Excellence in Complex Disease Genetics
Centre of Excellence in Stem Cell Metabolism
Nutrient sensing laboratory
HUS Abdominal Center
Complex Disease Genetics
Genomics of Neurological and Neuropsychiatric Disorders
Date: 2018-02-01
Language: eng
Number of pages: 7
Belongs to series: International Journal of Cancer
ISSN: 0020-7136
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 x 10(-4); OR, 1.14; 95% CI, 1.06-1.23), and it was genome-wide significant in combined analysis (p=1.50 x 10(-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 CRC in the Finnish population (false discovery rate
Subject: colorectal cancer
genetic predisposition to disease
genome-wide association study
single-nucleotide polymorphism
3122 Cancers
Peer reviewed: Yes
Usage restriction: openAccess
Self-archived version: acceptedVersion

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