Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

Law, Philip JORCID logo; Timofeeva, MariaORCID logo; Fernandez-Rozadilla, CeresORCID logo; Broderick, PeterORCID logo; Studd, JamesORCID logo; Fernandez-Tajes, Juan; Farrington, SusanORCID logo; Svinti, VictoriaORCID logo; Palles, Claire; Orlando, Giulia; +89 more...Sud, AmitORCID logo; Holroyd, Amy; Penegar, Steven; Theodoratou, Evropi; Vaughan-Shaw, Peter; Campbell, Harry; Zgaga, Lina; Hayward, CarolineORCID logo; Campbell, ArchieORCID logo; Harris, Sarah; Deary, Ian J; Starr, John; Gatcombe, Laura; Pinna, Maria; Briggs, Sarah; Martin, LynnORCID logo; Jaeger, Emma; Sharma-Oates, Archana; East, JamesORCID logo; Leedham, Simon; Arnold, Roland; Johnstone, Elaine; Wang, Haitao; Kerr, David; Kerr, Rachel; Maughan, Tim; Kaplan, RichardORCID logo; Al-Tassan, NadaORCID logo; Palin, KimmoORCID logo; Hänninen, Ulrika A; Cajuso, Tatiana; Tanskanen, Tomas; Kondelin, Johanna; Kaasinen, Eevi; Sarin, Antti-Pekka; Eriksson, Johan G; Rissanen, Harri; Knekt, Paul; Pukkala, Eero; Jousilahti, Pekka; Salomaa, VeikkoORCID logo; Ripatti, Samuli; Palotie, Aarno; Renkonen-Sinisalo, Laura; Lepistö, Anna; Böhm, Jan; Mecklin, Jukka-Pekka; Buchanan, Daniel DORCID logo; Win, Aung-KoORCID logo; Hopper, John; Jenkins, Mark EORCID logo; Lindor, Noralane M; Newcomb, Polly A; Gallinger, Steven; Duggan, David; Casey, Graham; Hoffmann, Per; Nöthen, Markus M; Jöckel, Karl-Heinz; Easton, Douglas FORCID logo; Pharoah, Paul DPORCID logo; Peto, JulianORCID logo; Canzian, Federico; Swerdlow, Anthony; Eeles, Rosalind AORCID logo; Kote-Jarai, Zsofia; Muir, KennethORCID logo; Pashayan, NoraORCID logo; PRACTICAL consortium; Harkin, AndreaORCID logo; Allan, Karen; McQueen, John; Paul, JamesORCID logo; Iveson, Timothy; Saunders, Mark; Butterbach, Katja; Chang-Claude, Jenny; Hoffmeister, Michael; Brenner, Hermann; Kirac, Iva; Matošević, Petar; Hofer, PhilippORCID logo; Brezina, StefanieORCID logo; Gsur, Andrea; Cheadle, Jeremy PORCID logo; Aaltonen, Lauri A; Tomlinson, IanORCID logo; Houlston, Richard SORCID logo; and Dunlop, Malcolm G (2019) Association analyses identify 31 new risk loci for colorectal cancer susceptibility. Nature Communications, 10 (1). 2154-. ISSN 2041-1723 DOI: 10.1038/s41467-019-09775-w
Copy

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.


picture_as_pdf
Law-etal-2019-Association-analyses-identify-31-new-risk-loci.pdf
subject
Published Version
Available under Creative Commons: Attribution 3.0

View Download

Atom BibTeX OpenURL ContextObject in Span Multiline CSV OpenURL ContextObject Dublin Core Dublin Core MPEG-21 DIDL Data Cite XML EndNote HTML Citation JSON MARC (ASCII) MARC (ISO 2709) METS MODS RDF+N3 RDF+N-Triples RDF+XML RIOXX2 XML Reference Manager Refer Simple Metadata ASCII Citation EP3 XML
Export

Downloads