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Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries

Authors :
Ceres Fernandez-Rozadilla
Maria Timofeeva
Zhishan Chen
Philip Law
Minta Thomas
Stephanie Schmit
Virginia Díez-Obrero
Li Hsu
Juan Fernandez-Tajes
Claire Palles
Kitty Sherwood
Sarah Briggs
Victoria Svinti
Kevin Donnelly
Susan Farrington
James Blackmur
Peter Vaughan-Shaw
Xiao-ou Shu
Jirong Long
Qiuyin Cai
Xingyi Guo
Yingchang Lu
Peter Broderick
James Studd
Jeroen Huyghe
Tabitha Harrison
David Conti
Christopher Dampier
Mathew Devall
Fredrick Schumacher
Marilena Melas
Gad Rennert
Mireia Obón-Santacana
Vicente Martín-Sánchez
Ferran Moratalla-Navarro
Jae Hwan Oh
Jeongseon Kim
Sun Ha Jee
Keum Ji Jung
Sun-Seog Kweon
Min-Ho Shin
Aesun Shin
Yoon-Ok Ahn
Dong-Hyun Kim
Isao Oze
Wanqing Wen
Keitaro Matsuo
Koichi Matsuda
Chizu Tanikawa
Zefang Ren
Yu-Tang Gao
Wei-Hua Jia
John Hopper
Mark Jenkins
Aung Ko Win
Rish Pai
Jane Figueiredo
Robert Haile
Steven Gallinger
Michael Woods
Polly Newcomb
David Duggan
Jeremy Cheadle
Richard Kaplan
Timothy Maughan
Rachel Kerr
David Kerr
Iva Kirac
Jan Böhm
Lukka-Pekka Mecklin
Pekka Jousilahti
Paul Knekt
Lauri Aaltonen
Harri Rissanen
Eero Pukkala
Johan Eriksson
Tatiana Cajuso
Ulrika Hänninen
Johanna Kondelin
Kimmo Palin
Tomas Tanskanen
Laura Renkonen-Sinisalo
Brent Zanke
Satu Männistö
Demetrius Albanes
Stephanie Weinstein
Edward Ruiz-Narvaez
Julie Palmer
Daniel Buchanan
Elizabeth Platz
Kala Visvanathan
Cornelia Ulrich
Erin Siegel
Stefanie Brezina
Andrea Gsur
Peter Campbell
Jenny Chang-Claude
Michael Hoffmeister
Hermann Brenner
Martha Slattery
John Potter
Konstantinos Tsilidis
Matthias Schulze
Marc Gunter
Neil Murphy
Antoni Castells
Sergi Castellví-Bel
Leticia Moreira
Volker Arndt
Anna Shcherbina
Mariana Stern
Bens Pardamean
Timothy Bishop
Graham Giles
Melissa Southey
Gregory Idos
Kevin McDonnell
Zomoroda Abu-Ful
Joel Greenson
Katerina Shulman
Flavio Lejbkowicz
Kenneth Offit
Yu-Ru Su
Robert Steinfelder
Temitope Keku
Bethany van Guelpen
Thomas Hudson
Heather Hampel
Rachel Pearlman
Sonja Berndt
Richard Hayes
Marie Elena Martinez
Sushma Thomas
Douglas Corley
Paul Pharoah
Susanna Larsson
Yun Yen
Heinz-Josef Lenz
Emily White
Li Li
Kimberly Doheny
Elizabeth Pugh
Tameka Shelford
Andrew Chan
Marcia Cruz-Correa
Annika Lindblom
David Hunter
Amit Joshi
Clemens Schafmayer
Peter Scacheri
Anshul Kundaje
Deborah Nickerson
Robert Schoen
Jochen Hampe
Zsofia Stadler
Pavel Vodicka
Ludmila Vodickova
Veronika Vymetalkova
Nickolas Papadopoulos
Chistopher Edlund
William Gauderman
Duncan Thomas
David Shibata
Amanda Toland
Sanford Markowitz
Andre Kim
Stephen Chanock
Franzel van Duijnhoven
Edith Feskens
Lori Sakoda
Manuela Gago-Dominguez
Alicja Wolk
Alessio Naccarati
Barbara Pardini
Liesel FitzGerald
Soo Chin Lee
Shuji Ogino
Stephanie Bien
Charles Kooperberg
Christopher Li
Yi Lin
Ross Prentice
Conghui Qu
Stéphane Bézieau
Catherine Tangen
Elaine Mardis
Taiki Yamaji
Norie Sawada
Motoki Iwasaki
Christopher Haiman
Loic Le Marchand
Anna Wu
Chenxu Qu
Caroline McNeil
Gerhard Coetzee
Caroline Hayward
Ian Deary
Sarah Harris
Evropi Theodoratou
Stuart Reid
Marion Walker
Li Yin Ooi
Victor Moreno
Graham Casey
Stephen Gruber
Ian Tomlinson
Wei Zheng
Malcolm Dunlop
Richard Houlston
Ulrike Peters
Source :
Nature Genetics 55 (2023) 1, Nat Genet, Nature Genetics, 55(1), 89-99, Fernandez-rozadilla, C, Timofeeva, M, Chen, Z, Law, P, Thomas, M, Schmit, S, Díez-obrero, V, Hsu, L, Fernandez-tajes, J, Palles, C, Sherwood, K, Briggs, S, Svinti, V, Donnelly, K, Farrington, S, Blackmur, J, Vaughan-shaw, P, Shu, X, Long, J, Cai, Q, Guo, X, Lu, Y, Broderick, P, Studd, J, Huyghe, J, Harrison, T, Conti, D, Dampier, C, Devall, M, Schumacher, F, Melas, M, Rennert, G, Obón-santacana, M, Martín-sánchez, V, Moratalla-navarro, F, Oh, J H, Kim, J, Jee, S H, Jung, K J, Kweon, S, Shin, M, Shin, A, Ahn, Y, Kim, D, Oze, I, Wen, W, Matsuo, K, Matsuda, K, Tanikawa, C, Ren, Z, Gao, Y, Jia, W, Hopper, J, Jenkins, M, Win, A K, Pai, R, Figueiredo, J, Haile, R, Gallinger, S, Woods, M, Newcomb, P, Duggan, D, Cheadle, J, Kaplan, R, Maughan, T, Kerr, R, Kerr, D, Kirac, I, Böhm, J, Mecklin, L, Jousilahti, P, Knekt, P, Aaltonen, L, Rissanen, H, Pukkala, E, Eriksson, J, Cajuso, T, Hänninen, U, Kondelin, J, Palin, K, Tanskanen, T, Renkonen-sinisalo, L, Zanke, B, Männistö, S, Albanes, D, Weinstein, S, Ruiz-narvaez, E, Palmer, J, Buchanan, D, Platz, E, Visvanathan, K, Ulrich, C, Siegel, E, Brezina, S, Gsur, A, Campbell, P, Chang-claude, J, Hoffmeister, M, Brenner, H, Slattery, M, Potter, J, Tsilidis, K, Schulze, M, Gunter, M, Murphy, N, Castells, A, Castellví-bel, S, Moreira, L, Arndt, V, Shcherbina, A, Stern, M, Pardamean, B, Bishop, T, Giles, G, Southey, M, Idos, G, Mcdonnell, K, Abu-ful, Z, Greenson, J, Shulman, K, Lejbkowicz, F, Offit, K, Su, Y, Steinfelder, R, Keku, T, Van Guelpen, B, Hudson, T, Hampel, H, Pearlman, R, Berndt, S, Hayes, R, Martinez, M E, Thomas, S, Corley, D, Pharoah, P, Larsson, S, Yen, Y, Lenz, H, White, E, Li, L, Doheny, K, Pugh, E, Shelford, T, Chan, A, Cruz-correa, M, Lindblom, A, Hunter, D, Joshi, A, Schafmayer, C, Scacheri, P, Kundaje, A, Nickerson, D, Schoen, R, Hampe, J, Stadler, Z, Vodicka, P, Vodickova, L, Vymetalkova, V, Papadopoulos, N, Edlund, C, Gauderman, W, Thomas, D, Shibata, D, Toland, A, Markowitz, S, Kim, A, Chanock, S, Van Duijnhoven, F, Feskens, E, Sakoda, L, Gago-dominguez, M, Wolk, A, Naccarati, A, Pardini, B, Fitzgerald, L, Lee, S C, Ogino, S, Bien, S, Kooperberg, C, Li, C, Lin, Y, Prentice, R, Qu, C, Bézieau, S, Tangen, C, Mardis, E, Yamaji, T, Sawada, N, Iwasaki, M, Haiman, C, Le Marchand, L, Wu, A, Qu, C, Mcneil, C, Coetzee, G, Hayward, C, Deary, I, Harris, S, Theodoratou, E, Reid, S, Walker, M, Ooi, L Y, Moreno, V, Casey, G, Gruber, S, Tomlinson, I, Zheng, W, Dunlop, M, Houlston, R & Peters, U 2022, ' Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries ', Nature Genetics . https://doi.org/10.1038/s41588-022-01222-9, https://doi.org/10.1038/s41588-022-01222-9
Publication Year :
2023

Abstract

Colorectal cancer (CRC) is a leading cause of mortality worldwide. We conducted a genome-wide association study meta-analysis of 100,204 CRC cases and 154,587 controls of European and East Asian ancestry, identifying 205 independent risk associations, of which 50 were unreported. We performed integrative genomic, transcriptomic and methylomic analyses across large bowel mucosa and other tissues. Transcriptome- and methylome-wide association studies revealed an additional 53 risk associations. We identified 155 high confidence effector genes functionally linked to CRC risk, many of which had no previously established role in CRC. These have multiple different functions, and specifically indicate that variation in normal colorectal homeostasis, proliferation, cell adhesion, migration, immunity and microbial interactions determines CRC risk. Cross-tissue analyses indicated that over a third of effector genes most likely act outside the colonic mucosa. Our findings provide insights into colorectal oncogenesis, and highlight potential targets across tissues for new CRC treatment and chemoprevention strategies.

Details

Language :
English
ISSN :
10614036
Database :
OpenAIRE
Journal :
Nature Genetics 55 (2023) 1, Nat Genet, Nature Genetics, 55(1), 89-99, Fernandez-rozadilla, C, Timofeeva, M, Chen, Z, Law, P, Thomas, M, Schmit, S, Díez-obrero, V, Hsu, L, Fernandez-tajes, J, Palles, C, Sherwood, K, Briggs, S, Svinti, V, Donnelly, K, Farrington, S, Blackmur, J, Vaughan-shaw, P, Shu, X, Long, J, Cai, Q, Guo, X, Lu, Y, Broderick, P, Studd, J, Huyghe, J, Harrison, T, Conti, D, Dampier, C, Devall, M, Schumacher, F, Melas, M, Rennert, G, Obón-santacana, M, Martín-sánchez, V, Moratalla-navarro, F, Oh, J H, Kim, J, Jee, S H, Jung, K J, Kweon, S, Shin, M, Shin, A, Ahn, Y, Kim, D, Oze, I, Wen, W, Matsuo, K, Matsuda, K, Tanikawa, C, Ren, Z, Gao, Y, Jia, W, Hopper, J, Jenkins, M, Win, A K, Pai, R, Figueiredo, J, Haile, R, Gallinger, S, Woods, M, Newcomb, P, Duggan, D, Cheadle, J, Kaplan, R, Maughan, T, Kerr, R, Kerr, D, Kirac, I, Böhm, J, Mecklin, L, Jousilahti, P, Knekt, P, Aaltonen, L, Rissanen, H, Pukkala, E, Eriksson, J, Cajuso, T, Hänninen, U, Kondelin, J, Palin, K, Tanskanen, T, Renkonen-sinisalo, L, Zanke, B, Männistö, S, Albanes, D, Weinstein, S, Ruiz-narvaez, E, Palmer, J, Buchanan, D, Platz, E, Visvanathan, K, Ulrich, C, Siegel, E, Brezina, S, Gsur, A, Campbell, P, Chang-claude, J, Hoffmeister, M, Brenner, H, Slattery, M, Potter, J, Tsilidis, K, Schulze, M, Gunter, M, Murphy, N, Castells, A, Castellví-bel, S, Moreira, L, Arndt, V, Shcherbina, A, Stern, M, Pardamean, B, Bishop, T, Giles, G, Southey, M, Idos, G, Mcdonnell, K, Abu-ful, Z, Greenson, J, Shulman, K, Lejbkowicz, F, Offit, K, Su, Y, Steinfelder, R, Keku, T, Van Guelpen, B, Hudson, T, Hampel, H, Pearlman, R, Berndt, S, Hayes, R, Martinez, M E, Thomas, S, Corley, D, Pharoah, P, Larsson, S, Yen, Y, Lenz, H, White, E, Li, L, Doheny, K, Pugh, E, Shelford, T, Chan, A, Cruz-correa, M, Lindblom, A, Hunter, D, Joshi, A, Schafmayer, C, Scacheri, P, Kundaje, A, Nickerson, D, Schoen, R, Hampe, J, Stadler, Z, Vodicka, P, Vodickova, L, Vymetalkova, V, Papadopoulos, N, Edlund, C, Gauderman, W, Thomas, D, Shibata, D, Toland, A, Markowitz, S, Kim, A, Chanock, S, Van Duijnhoven, F, Feskens, E, Sakoda, L, Gago-dominguez, M, Wolk, A, Naccarati, A, Pardini, B, Fitzgerald, L, Lee, S C, Ogino, S, Bien, S, Kooperberg, C, Li, C, Lin, Y, Prentice, R, Qu, C, Bézieau, S, Tangen, C, Mardis, E, Yamaji, T, Sawada, N, Iwasaki, M, Haiman, C, Le Marchand, L, Wu, A, Qu, C, Mcneil, C, Coetzee, G, Hayward, C, Deary, I, Harris, S, Theodoratou, E, Reid, S, Walker, M, Ooi, L Y, Moreno, V, Casey, G, Gruber, S, Tomlinson, I, Zheng, W, Dunlop, M, Houlston, R & Peters, U 2022, ' Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries ', Nature Genetics . https://doi.org/10.1038/s41588-022-01222-9, https://doi.org/10.1038/s41588-022-01222-9
Accession number :
edsair.doi.dedup.....15df4717f873c1a13103310e40445c44