Association analyses identify 31 new risk loci for colorectal cancer susceptibility

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PRACTICAL Consortium , Law , P J , Timofeeva , M , Fernandez-Rozadilla , C , Palin , K , Hänninen , U A , Cajuso , T , Tanskanen , T , Kondelin , J , Kaasinen , E , Sarin , A-P , Eriksson , J G , Jousilahti , P , Ripatti , S , Palotie , A , Renkonen-Sinisalo , L , Lepistö , A , Aaltonen , L A , Rissanen , H , Salomaa , V , Böhm , J , Mecklin , J-P & Pukkala , E 2019 , ' Association analyses identify 31 new risk loci for colorectal cancer susceptibility ' , Nature Communications , vol. 10 , 2154 .

Title: Association analyses identify 31 new risk loci for colorectal cancer susceptibility
Author: PRACTICAL Consortium; Law, Philip J.; Timofeeva, Maria; Fernandez-Rozadilla, Ceres; Palin, Kimmo; Hänninen, Ulrika A.; Cajuso, Tatiana; Tanskanen, Tomas; Kondelin, Johanna; Kaasinen, Eevi; Sarin, Antti-Pekka; Eriksson, Johan G.; Jousilahti, Pekka; Ripatti, Samuli; Palotie, Aarno; Renkonen-Sinisalo, Laura; Lepistö, Anna; Aaltonen, Lauri A.; Rissanen, Harri; Salomaa, Veikko; Böhm, Jan; Mecklin, Jukka-Pekka; Pukkala, Eero
Contributor organization: Lauri Antti Aaltonen / Principal Investigator
Genome-Scale Biology (GSB) Research Program
Research Programs Unit
Department of Medical and Clinical Genetics
University of Helsinki
CAN-PRO - Translational Cancer Medicine Program
Doctoral Programme in Biomedicine
Institute for Molecular Medicine Finland
Johan Eriksson / Principal Investigator
Department of General Practice and Primary Health Care
Centre of Excellence in Complex Disease Genetics
Department of Public Health
Samuli Olli Ripatti / Principal Investigator
Biostatistics Helsinki
Aarno Palotie / Principal Investigator
Department of Surgery
II kirurgian klinikka
HUS Abdominal Center
Complex Disease Genetics
Genomics of Neurological and Neuropsychiatric Disorders
Date: 2019-05-14
Language: eng
Number of pages: 15
Belongs to series: Nature Communications
ISSN: 2041-1723
Abstract: 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.
3111 Biomedicine
1184 Genetics, developmental biology, physiology
Peer reviewed: Yes
Rights: cc_by
Usage restriction: openAccess
Self-archived version: publishedVersion

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