A1 Refereed original research article in a scientific journal
Association analyses identify 31 new risk loci for colorectal cancer susceptibility
Authors: Law PJ, Timofeeva M, Fernandez-Rozadilla C, Timofeeva A, Broderick P, Studd J, Fernandez-Tajes J, Farrington S, Svinti V, Palles C, Orlando G, Sud A, Holroyd A, Penegar S, Theodoratou E, Vaughan-Shaw P, Campbell H, Zgaga L, Hayward C, Campbell A, Harris S, Deary IJ, Starr O, Gatcombe L, Pinna M, Briggs S, Martin L, Jaeger E, Sharma-Oates A, East J, Leedham S, Arnold R, Johnstone E, Wang H, Kerr D, Kerr R, Maughan T, Kaplan R, Al-Tassan N, Palin K, Hanninen UA, Cajuso T, Tanskanen T, Kondelin J, Kaasinen E, Sarin AP, Eriksson JG, Rissanen H, Knekt P, Pukkala E, Jousilahti P, Salomaa V, Ripatti S, Palotie A, Renkonen-Sinisalo L, Lepisto A, Bohm J, Mecklin JP, Buchanan DD, Win AK, Hopper J, Jenkins ME, Lindor NM, Newcomb PA, Gallinger S, Duggan D, Casey G, Hoffmann P, Nothen MM, Jockel KH, Easton DF, Pharoah PDP, Peto J, Canzian F, Swerdlow A, Eeles RA, Kote-Jarai Z, Muir K, Pashayan N, Harkin A, Allan K, McQueen J, Paul J, Iveson T, Saunders M, Butterbach K, Chang-Claude J, Hoffmeister M, Brenner H, Kirac I, Matosevic P, Hofer P, Brezina S, Gsur A, Cheadle JP, Aaltonen LA, Tomlinson I, Houlston RS, Dunlop MG, Henderson BE, Haiman CA, Schumacher FR, Al Olama AA, Benlloch S, Berndt SI, Conti DV, Wiklund F, Chanock S, Gapstur S, Stevens VL, Tangen CM, Batra J, Clements J, Gronberg H, Schleutker J, Albanes D, Wolk A, West C, Mucci L, Cancel-Tassin G, Koutros S, Sorensen KD, Grindeda EM, Neal DE, Hamdy FC, Donovan JL, Travis RC, Hamilton RJ, Ingles SA, Rosenstein BS, Lu YJ, Giles GG, Kibel AS, Vega A, Kogevinas M, Penney KL, Park JY, Stanford JL, Cybulski C, Nordestgaard BG, Maier C, Kim J, John EM, Teixeira MR, Neuhausen SL, De Ruyck K, Razack A, Newcomb LF, Gamulin M, Kaneva R, Usmani N, Claessens F, Townsend PA, Gago-Dominguez M, Roobol MJ, Menegaux F, Khaw KT, Cannon-Albright L, Pandha H, Thibodeau SN
Publisher: NATURE PUBLISHING GROUP
Publication year: 2019
Journal: Nature Communications
Journal name in source: NATURE COMMUNICATIONS
Journal acronym: NAT COMMUN
Article number: ARTN 2154
Volume: 10
Number of pages: 15
ISSN: 2041-1723
DOI: https://doi.org/10.1038/s41467-019-09775-w
Self-archived copy’s web address: https://research.utu.fi/converis/portal/detail/Publication/40893251
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.
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