Association analyses identify 31 new risk loci for colorectal cancer susceptibility

Show full item record



Permalink

http://hdl.handle.net/10138/303531

Citation

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 . https://doi.org/10.1038/s41467-019-09775-w

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: University of Helsinki, Lauri Antti Aaltonen / Principal Investigator
University of Helsinki, Genome-Scale Biology (GSB) Research Program
University of Helsinki, CAN-PRO - Translational Cancer Medicine Program
University of Helsinki, Genome-Scale Biology (GSB) Research Program
University of Helsinki, Lauri Antti Aaltonen / Principal Investigator
University of Helsinki, Genome-Scale Biology (GSB) Research Program
University of Helsinki, Institute for Molecular Medicine Finland
University of Helsinki, Johan Eriksson / Principal Investigator
University of Helsinki, Centre of Excellence in Complex Disease Genetics
University of Helsinki, Centre of Excellence in Complex Disease Genetics
University of Helsinki, Department of Surgery
University of Helsinki, II kirurgian klinikka
University of Helsinki, Lauri Antti Aaltonen / Principal Investigator
Date: 2019-05-14
Language: eng
Number of pages: 15
Belongs to series: Nature Communications
ISSN: 2041-1723
URI: http://hdl.handle.net/10138/303531
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.
Subject: GENOME-WIDE ASSOCIATION
TRANSCRIPTION FACTOR-BINDING
COHORT PROFILE
METAANALYSIS
IMPUTATION
GWAS
IDENTIFICATION
HERITABILITY
CHROMATIN
3111 Biomedicine
1184 Genetics, developmental biology, physiology
Rights:


Files in this item

Total number of downloads: Loading...

Files Size Format View
s41467_019_09775_w.pdf 2.518Mb PDF View/Open

This item appears in the following Collection(s)

Show full item record