Nature Communications (Apr 2024)
Fine-mapping analysis including over 254,000 East Asian and European descendants identifies 136 putative colorectal cancer susceptibility genes
- Zhishan Chen,
- Xingyi Guo,
- Ran Tao,
- Jeroen R. Huyghe,
- Philip J. Law,
- Ceres Fernandez-Rozadilla,
- Jie Ping,
- Guochong Jia,
- Jirong Long,
- Chao Li,
- Quanhu Shen,
- Yuhan Xie,
- Maria N. Timofeeva,
- Minta Thomas,
- Stephanie L. Schmit,
- Virginia Díez-Obrero,
- Matthew Devall,
- Ferran Moratalla-Navarro,
- Juan Fernandez-Tajes,
- Claire Palles,
- Kitty Sherwood,
- Sarah E. W. Briggs,
- Victoria Svinti,
- Kevin Donnelly,
- Susan M. Farrington,
- James Blackmur,
- Peter G. Vaughan-Shaw,
- Xiao-Ou Shu,
- Yingchang Lu,
- Peter Broderick,
- James Studd,
- Tabitha A. Harrison,
- David V. Conti,
- Fredrick R. Schumacher,
- Marilena Melas,
- Gad Rennert,
- Mireia Obón-Santacana,
- Vicente Martín-Sánchez,
- 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 L. Hopper,
- Mark A. Jenkins,
- Aung Ko Win,
- Rish K. Pai,
- Jane C. Figueiredo,
- Robert W. Haile,
- Steven Gallinger,
- Michael O. Woods,
- Polly A. Newcomb,
- David Duggan,
- Jeremy P. Cheadle,
- Richard Kaplan,
- Rachel Kerr,
- David Kerr,
- Iva Kirac,
- Jan Böhm,
- Jukka-Pekka Mecklin,
- Pekka Jousilahti,
- Paul Knekt,
- Lauri A. Aaltonen,
- Harri Rissanen,
- Eero Pukkala,
- Johan G. Eriksson,
- Tatiana Cajuso,
- Ulrika Hänninen,
- Johanna Kondelin,
- Kimmo Palin,
- Tomas Tanskanen,
- Laura Renkonen-Sinisalo,
- Satu Männistö,
- Demetrius Albanes,
- Stephanie J. Weinstein,
- Edward Ruiz-Narvaez,
- Julie R. Palmer,
- Daniel D. Buchanan,
- Elizabeth A. Platz,
- Kala Visvanathan,
- Cornelia M. Ulrich,
- Erin Siegel,
- Stefanie Brezina,
- Andrea Gsur,
- Peter T. Campbell,
- Jenny Chang-Claude,
- Michael Hoffmeister,
- Hermann Brenner,
- Martha L. Slattery,
- John D. Potter,
- Kostas K. Tsilidis,
- Matthias B. Schulze,
- Marc J. Gunter,
- Neil Murphy,
- Antoni Castells,
- Sergi Castellví-Bel,
- Leticia Moreira,
- Volker Arndt,
- Anna Shcherbina,
- D. Timothy Bishop,
- Graham G. Giles,
- Melissa C. Southey,
- Gregory E. Idos,
- Kevin J. McDonnell,
- Zomoroda Abu-Ful,
- Joel K. Greenson,
- Katerina Shulman,
- Flavio Lejbkowicz,
- Kenneth Offit,
- Yu-Ru Su,
- Robert Steinfelder,
- Temitope O. Keku,
- Bethany van Guelpen,
- Thomas J. Hudson,
- Heather Hampel,
- Rachel Pearlman,
- Sonja I. Berndt,
- Richard B. Hayes,
- Marie Elena Martinez,
- Sushma S. Thomas,
- Paul D. P. Pharoah,
- Susanna C. Larsson,
- Yun Yen,
- Heinz-Josef Lenz,
- Emily White,
- Li Li,
- Kimberly F. Doheny,
- Elizabeth Pugh,
- Tameka Shelford,
- Andrew T. Chan,
- Marcia Cruz-Correa,
- Annika Lindblom,
- David J. Hunter,
- Amit D. Joshi,
- Clemens Schafmayer,
- Peter C. Scacheri,
- Anshul Kundaje,
- Robert E. Schoen,
- Jochen Hampe,
- Zsofia K. Stadler,
- Pavel Vodicka,
- Ludmila Vodickova,
- Veronika Vymetalkova,
- Christopher K. Edlund,
- W. James Gauderman,
- David Shibata,
- Amanda Toland,
- Sanford Markowitz,
- Andre Kim,
- Stephen J. Chanock,
- Franzel van Duijnhoven,
- Edith J. M. Feskens,
- Lori C. Sakoda,
- Manuela Gago-Dominguez,
- Alicja Wolk,
- Barbara Pardini,
- Liesel M. FitzGerald,
- Soo Chin Lee,
- Shuji Ogino,
- Stephanie A. Bien,
- Charles Kooperberg,
- Christopher I. Li,
- Yi Lin,
- Ross Prentice,
- Conghui Qu,
- Stéphane Bézieau,
- Taiki Yamaji,
- Norie Sawada,
- Motoki Iwasaki,
- Loic Le Marchand,
- Anna H. Wu,
- Chenxu Qu,
- Caroline E. McNeil,
- Gerhard Coetzee,
- Caroline Hayward,
- Ian J. Deary,
- Sarah E. Harris,
- Evropi Theodoratou,
- Stuart Reid,
- Marion Walker,
- Li Yin Ooi,
- Ken S. Lau,
- Hongyu Zhao,
- Li Hsu,
- Qiuyin Cai,
- Malcolm G. Dunlop,
- Stephen B. Gruber,
- Richard S. Houlston,
- Victor Moreno,
- Graham Casey,
- Ulrike Peters,
- Ian Tomlinson,
- Wei Zheng
Affiliations
- Zhishan Chen
- Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt Epidemiology Center, Vanderbilt University Medical Center
- Xingyi Guo
- Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt Epidemiology Center, Vanderbilt University Medical Center
- Ran Tao
- Department of Biostatistics, Vanderbilt University Medical Center
- Jeroen R. Huyghe
- Public Health Sciences Division, Fred Hutchinson Cancer Center
- Philip J. Law
- Division of Genetics and Epidemiology, Institute of Cancer Research
- Ceres Fernandez-Rozadilla
- Edinburgh Cancer Research Centre, Institute of Genomics and Cancer, University of Edinburgh
- Jie Ping
- Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt Epidemiology Center, Vanderbilt University Medical Center
- Guochong Jia
- Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt Epidemiology Center, Vanderbilt University Medical Center
- Jirong Long
- Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt Epidemiology Center, Vanderbilt University Medical Center
- Chao Li
- Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt Epidemiology Center, Vanderbilt University Medical Center
- Quanhu Shen
- Department of Biostatistics, Vanderbilt University Medical Center
- Yuhan Xie
- Department of Biostatistics, Yale School of Public Health
- Maria N. Timofeeva
- Colon Cancer Genetics Group, Medical Research Council Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh
- Minta Thomas
- Public Health Sciences Division, Fred Hutchinson Cancer Center
- Stephanie L. Schmit
- Genomic Medicine Institute, Cleveland Clinic
- Virginia Díez-Obrero
- Colorectal Cancer Group, ONCOBELL Program, Bellvitge Biomedical Research Institute
- Matthew Devall
- Center for Public Health Genomics, Department of Public Health Sciences, University of Virginia
- Ferran Moratalla-Navarro
- Colorectal Cancer Group, ONCOBELL Program, Bellvitge Biomedical Research Institute
- Juan Fernandez-Tajes
- Edinburgh Cancer Research Centre, Institute of Genomics and Cancer, University of Edinburgh
- Claire Palles
- Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham
- Kitty Sherwood
- Edinburgh Cancer Research Centre, Institute of Genomics and Cancer, University of Edinburgh
- Sarah E. W. Briggs
- Department of Public Health, Richard Doll Building, University of Oxford
- Victoria Svinti
- Colon Cancer Genetics Group, Medical Research Council Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh
- Kevin Donnelly
- Colon Cancer Genetics Group, Medical Research Council Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh
- Susan M. Farrington
- Colon Cancer Genetics Group, Medical Research Council Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh
- James Blackmur
- Colon Cancer Genetics Group, Medical Research Council Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh
- Peter G. Vaughan-Shaw
- Colon Cancer Genetics Group, Medical Research Council Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh
- Xiao-Ou Shu
- Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt Epidemiology Center, Vanderbilt University Medical Center
- Yingchang Lu
- Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt Epidemiology Center, Vanderbilt University Medical Center
- Peter Broderick
- Division of Genetics and Epidemiology, Institute of Cancer Research
- James Studd
- Division of Genetics and Epidemiology, Institute of Cancer Research
- Tabitha A. Harrison
- Public Health Sciences Division, Fred Hutchinson Cancer Center
- David V. Conti
- Department of Preventive Medicine, USC Norris Comprehensive Cancer Center, Keck School of Medicine, University of Southern California
- Fredrick R. Schumacher
- Case Comprehensive Cancer Center, Case Western Reserve University
- Marilena Melas
- The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children’s Hospital
- Gad Rennert
- Clalit National Cancer Control Center
- Mireia Obón-Santacana
- Colorectal Cancer Group, ONCOBELL Program, Bellvitge Biomedical Research Institute
- Vicente Martín-Sánchez
- Consortium for Biomedical Research in Epidemiology and Public Health
- Jae Hwan Oh
- Center for Colorectal Cancer, National Cancer Center Hospital, National Cancer Center
- Jeongseon Kim
- Department of Cancer Biomedical Science, Graduate School of Cancer Science and Policy, National Cancer Center
- Sun Ha Jee
- Department of Epidemiology and Health Promotion, Graduate School of Public Health, Yonsei University
- Keum Ji Jung
- Department of Epidemiology and Health Promotion, Graduate School of Public Health, Yonsei University
- Sun-Seog Kweon
- Department of Preventive Medicine, Chonnam National University Medical School
- Min-Ho Shin
- Department of Preventive Medicine, Chonnam National University Medical School
- Aesun Shin
- Cancer Research Institute, Seoul National University
- Yoon-Ok Ahn
- Department of Preventive Medicine, Seoul National University College of Medicine
- Dong-Hyun Kim
- Department of Social and Preventive Medicine, Hallym University College of Medicine
- Isao Oze
- Division of Cancer Epidemiology and Prevention, Aichi Cancer Center Research Institute
- Wanqing Wen
- Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt Epidemiology Center, Vanderbilt University Medical Center
- Keitaro Matsuo
- Department of Epidemiology, Nagoya University Graduate School of Medicine
- Koichi Matsuda
- Laboratory of Clinical Genome Sequencing, Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, University of Tokyo
- Chizu Tanikawa
- Laboratory of Genome Technology, Human Genome Center, Institute of Medical Science, University of Tokyo
- Zefang Ren
- School of Public Health, Sun Yat-sen University
- Yu-Tang Gao
- State Key Laboratory of Oncogenes and Related Genes and Department of Epidemiology, Shanghai Cancer Institute, Renji Hospital, Shanghai Jiaotong University School of Medicine
- Wei-Hua Jia
- State Key Laboratory of Oncology in South China, Cancer Center, Sun Yat-sen University
- John L. Hopper
- Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, University of Melbourne
- Mark A. Jenkins
- Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, University of Melbourne
- Aung Ko Win
- Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, University of Melbourne
- Rish K. Pai
- Department of Laboratory Medicine and Pathology, Mayo Clinic Arizona
- Jane C. Figueiredo
- Department of Preventive Medicine, USC Norris Comprehensive Cancer Center, Keck School of Medicine, University of Southern California
- Robert W. Haile
- Division of Oncology, Department of Medicine, Cedars-Sinai Cancer Research Center for Health Equity
- Steven Gallinger
- Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, University of Toronto
- Michael O. Woods
- Division of Biomedical Sciences, Memorial University of Newfoundland
- Polly A. Newcomb
- Public Health Sciences Division, Fred Hutchinson Cancer Center
- David Duggan
- City of Hope National Medical Center, Translational Genomics Research Institute
- Jeremy P. Cheadle
- Institute of Medical Genetics, Cardiff University
- Richard Kaplan
- MRC Clinical Trials Unit, Medical Research Council
- Rachel Kerr
- Department of Oncology, University of Oxford
- David Kerr
- Radcliffe Department of Medicine, University of Oxford
- Iva Kirac
- Department of Surgical Oncology, University Hospital for Tumors, Sestre milosrdnice University Hospital Center
- Jan Böhm
- Department of Pathology, Central Finland Health Care District
- Jukka-Pekka Mecklin
- Central Finland Health Care District
- Pekka Jousilahti
- Department of Health and Welfare, Finnish Institute for Health and Welfare
- Paul Knekt
- Department of Health and Welfare, Finnish Institute for Health and Welfare
- Lauri A. Aaltonen
- Department of Medical and Clinical Genetics, University of Helsinki
- Harri Rissanen
- Department of Public Health and Welfare, Finnish Institute for Health and Welfare
- Eero Pukkala
- Faculty of Social Sciences, Tampere University
- Johan G. Eriksson
- Folkhälsan Research Centre, University of Helsinki
- Tatiana Cajuso
- Department of Medical and Clinical Genetics, University of Helsinki
- Ulrika Hänninen
- Department of Medical and Clinical Genetics, University of Helsinki
- Johanna Kondelin
- Department of Medical and Clinical Genetics, University of Helsinki
- Kimmo Palin
- Department of Medical and Clinical Genetics, University of Helsinki
- Tomas Tanskanen
- Department of Medical and Clinical Genetics, University of Helsinki
- Laura Renkonen-Sinisalo
- Department of Surgery, Abdominal Centre, Helsinki University Hospital
- Satu Männistö
- Department of Public Health and Welfare, Finnish Institute for Health and Welfare
- Demetrius Albanes
- Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health
- Stephanie J. Weinstein
- Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health
- Edward Ruiz-Narvaez
- Department of Nutritional Sciences, School of Public Health, University of Michigan
- Julie R. Palmer
- Department of Medicine, Boston University School of Medicine
- Daniel D. Buchanan
- Colorectal Oncogenomics Group, Department of Clinical Pathology, University of Melbourne
- Elizabeth A. Platz
- Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health
- Kala Visvanathan
- Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health
- Cornelia M. Ulrich
- Huntsman Cancer Institute and Department of Population Health Sciences, University of Utah
- Erin Siegel
- Cancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute
- Stefanie Brezina
- Institute of Cancer Research, Department of Medicine I, Medical University Vienna
- Andrea Gsur
- Institute of Cancer Research, Department of Medicine I, Medical University Vienna
- Peter T. Campbell
- Department of Epidemiology and Population Health, Albert Einstein College of Medicine
- Jenny Chang-Claude
- Division of Cancer Epidemiology, German Cancer Research Center
- Michael Hoffmeister
- Division of Clinical Epidemiology and Aging Research, German Cancer Research Center
- Hermann Brenner
- Division of Clinical Epidemiology and Aging Research, German Cancer Research Center
- Martha L. Slattery
- Department of Internal Medicine, University of Utah
- John D. Potter
- Public Health Sciences Division, Fred Hutchinson Cancer Center
- Kostas K. Tsilidis
- Department of Epidemiology and Biostatistics, School of Public Health, Imperial College London
- Matthias B. Schulze
- Department of Molecular Epidemiology, German Institute of Human Nutrition Potsdam-Rehbruecke
- Marc J. Gunter
- Nutrition and Metabolism Branch, International Agency for Research on Cancer, World Health Organization
- Neil Murphy
- Nutrition and Metabolism Branch, International Agency for Research on Cancer, World Health Organization
- Antoni Castells
- Gastroenterology Department, Hospital Clínic, Institut d’Investigacions Biomèdiques August Pi i Sunyer, Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas, University of Barcelona
- Sergi Castellví-Bel
- Gastroenterology Department, Hospital Clínic, Institut d’Investigacions Biomèdiques August Pi i Sunyer, Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas, University of Barcelona
- Leticia Moreira
- Gastroenterology Department, Hospital Clínic, Institut d’Investigacions Biomèdiques August Pi i Sunyer, Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas, University of Barcelona
- Volker Arndt
- Division of Clinical Epidemiology and Aging Research, German Cancer Research Center
- Anna Shcherbina
- Department of Genetics, Stanford University
- D. Timothy Bishop
- Leeds Institute of Medical Research at St James’s, University of Leeds
- Graham G. Giles
- Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, University of Melbourne
- Melissa C. Southey
- Cancer Epidemiology Division, Cancer Council Victoria
- Gregory E. Idos
- Department of Medical Oncology and Center For Precision Medicine, City of Hope National Medical Center
- Kevin J. McDonnell
- Clalit National Cancer Control Center
- Zomoroda Abu-Ful
- Department of Community Medicine and Epidemiology, Lady Davis Carmel Medical Center
- Joel K. Greenson
- Clalit National Cancer Control Center
- Katerina Shulman
- Department of Community Medicine and Epidemiology, Lady Davis Carmel Medical Center
- Flavio Lejbkowicz
- Clalit National Cancer Control Center
- Kenneth Offit
- Clinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center
- Yu-Ru Su
- Kaiser Permanente Washington Health Research Institute
- Robert Steinfelder
- Public Health Sciences Division, Fred Hutchinson Cancer Center
- Temitope O. Keku
- Center for Gastrointestinal Biology and Disease, University of North Carolina
- Bethany van Guelpen
- Department of Radiation Sciences, Oncology Unit, Umeå University
- Thomas J. Hudson
- Ontario Institute for Cancer Research
- Heather Hampel
- Division of Human Genetics, Department of Internal Medicine, Ohio State University Comprehensive Cancer Center
- Rachel Pearlman
- Division of Human Genetics, Department of Internal Medicine, Ohio State University Comprehensive Cancer Center
- Sonja I. Berndt
- Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health
- Richard B. Hayes
- Division of Epidemiology, Department of Population Health, New York University School of Medicine
- Marie Elena Martinez
- Department of Family Medicine and Public Health, University of California San Diego
- Sushma S. Thomas
- Fred Hutchinson Cancer Center
- Paul D. P. Pharoah
- Department of Public Health and Primary Care, University of Cambridge
- Susanna C. Larsson
- Institute of Environmental Medicine, Karolinska Institutet
- Yun Yen
- Taipei Medical University
- Heinz-Josef Lenz
- Department of Medicine, Keck School of Medicine, University of Southern California
- Emily White
- Public Health Sciences Division, Fred Hutchinson Cancer Center
- Li Li
- Case Comprehensive Cancer Center, Case Western Reserve University
- Kimberly F. Doheny
- Center for Inherited Disease Research, Department of Genetic Medicine, Johns Hopkins University School of Medicine
- Elizabeth Pugh
- Center for Inherited Disease Research, Department of Genetic Medicine, Johns Hopkins University School of Medicine
- Tameka Shelford
- Center for Inherited Disease Research, Department of Genetic Medicine, Johns Hopkins University School of Medicine
- Andrew T. Chan
- Broad Institute of Harvard and MIT
- Marcia Cruz-Correa
- Comprehensive Cancer Center, University of Puerto Rico
- Annika Lindblom
- Department of Clinical Genetics, Karolinska University Hospital
- David J. Hunter
- Department of Epidemiology, Harvard T.H. Chan School of Public Health, Harvard University
- Amit D. Joshi
- Clinical and Translational Epidemiology Unit, Massachusetts General Hospital and Harvard Medical School
- Clemens Schafmayer
- Department of General Surgery, University Hospital Rostock
- Peter C. Scacheri
- Department of Genetics and Genome Sciences, Case Western Reserve University
- Anshul Kundaje
- Department of Genetics, Stanford University
- Robert E. Schoen
- Department of Medicine and Epidemiology, University of Pittsburgh Medical Center
- Jochen Hampe
- Department of Medicine I, University Hospital Dresden, Technische Universität Dresden
- Zsofia K. Stadler
- Department of Medicine, Weill Cornell Medical College
- Pavel Vodicka
- Department of Molecular Biology of Cancer, Institute of Experimental Medicine of the Czech Academy of Sciences
- Ludmila Vodickova
- Department of Molecular Biology of Cancer, Institute of Experimental Medicine of the Czech Academy of Sciences
- Veronika Vymetalkova
- Department of Molecular Biology of Cancer, Institute of Experimental Medicine of the Czech Academy of Sciences
- Christopher K. Edlund
- Department of Preventive Medicine, USC Norris Comprehensive Cancer Center, Keck School of Medicine, University of Southern California
- W. James Gauderman
- Department of Preventive Medicine, USC Norris Comprehensive Cancer Center, Keck School of Medicine, University of Southern California
- David Shibata
- Department of Surgery, University of Tennessee Health Science Center
- Amanda Toland
- Departments of Cancer Biology and Genetics and Internal Medicine, Comprehensive Cancer Center, Ohio State University
- Sanford Markowitz
- Departments of Medicine and Genetics, Case Comprehensive Cancer Center, Case Western Reserve University and University Hospitals of Cleveland
- Andre Kim
- Department of Preventive Medicine, USC Norris Comprehensive Cancer Center, Keck School of Medicine, University of Southern California
- Stephen J. Chanock
- Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health
- Franzel van Duijnhoven
- Division of Human Nutrition and Health, Wageningen University and Research
- Edith J. M. Feskens
- Division of Human Nutrition, Wageningen University and Research
- Lori C. Sakoda
- Public Health Sciences Division, Fred Hutchinson Cancer Center
- Manuela Gago-Dominguez
- Genomic Medicine Group, Galician Public Foundation of Genomic Medicine, Servicio Galego de Saude
- Alicja Wolk
- Institute of Environmental Medicine, Karolinska Institutet
- Barbara Pardini
- Candiolo Cancer Institute FPO-IRCCS
- Liesel M. FitzGerald
- Cancer Epidemiology Division, Cancer Council Victoria
- Soo Chin Lee
- National University Cancer Institute, Singapore, Cancer Science Institute of Singapore, National University of Singapore
- Shuji Ogino
- Department of Epidemiology, Harvard T.H. Chan School of Public Health, Harvard University
- Stephanie A. Bien
- Public Health Sciences Division, Fred Hutchinson Cancer Center
- Charles Kooperberg
- Public Health Sciences Division, Fred Hutchinson Cancer Center
- Christopher I. Li
- Public Health Sciences Division, Fred Hutchinson Cancer Center
- Yi Lin
- Public Health Sciences Division, Fred Hutchinson Cancer Center
- Ross Prentice
- Public Health Sciences Division, Fred Hutchinson Cancer Center
- Conghui Qu
- Public Health Sciences Division, Fred Hutchinson Cancer Center
- Stéphane Bézieau
- Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes
- Taiki Yamaji
- Division of Epidemiology, National Cancer Center Institute for Cancer Control, National Cancer Center
- Norie Sawada
- Division of Cohort Research, National Cancer Center Institute for Cancer Control, National Cancer Center
- Motoki Iwasaki
- Division of Epidemiology, National Cancer Center Institute for Cancer Control, National Cancer Center
- Loic Le Marchand
- Cancer Center, University of Hawaii
- Anna H. Wu
- Preventative Medicine, University of Southern California
- Chenxu Qu
- USC Norris Comprehensive Cancer Center, Keck School of Medicine, University of Southern California
- Caroline E. McNeil
- USC Norris Comprehensive Cancer Center, Keck School of Medicine, University of Southern California
- Gerhard Coetzee
- Van Andel Research Institute
- Caroline Hayward
- MRC Human Genetics Unit, Institute of Genomics and Cancer, University of Edinburgh
- Ian J. Deary
- Lothian Birth Cohorts group, Department of Psychology, University of Edinburgh
- Sarah E. Harris
- Lothian Birth Cohorts group, Department of Psychology, University of Edinburgh
- Evropi Theodoratou
- Centre for Global Health, Usher Institute, University of Edinburgh
- Stuart Reid
- Colon Cancer Genetics Group, Medical Research Council Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh
- Marion Walker
- Colon Cancer Genetics Group, Medical Research Council Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh
- Li Yin Ooi
- Colon Cancer Genetics Group, Medical Research Council Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh
- Ken S. Lau
- Epithelial Biology Center and Department of Cell and Developmental Biology, Vanderbilt University School of Medicine
- Hongyu Zhao
- Department of Biostatistics, Yale School of Public Health
- Li Hsu
- Public Health Sciences Division, Fred Hutchinson Cancer Center
- Qiuyin Cai
- Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt Epidemiology Center, Vanderbilt University Medical Center
- Malcolm G. Dunlop
- Colon Cancer Genetics Group, Medical Research Council Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh
- Stephen B. Gruber
- Department of Medical Oncology and Center For Precision Medicine, City of Hope National Medical Center
- Richard S. Houlston
- Division of Genetics and Epidemiology, Institute of Cancer Research
- Victor Moreno
- Colorectal Cancer Group, ONCOBELL Program, Bellvitge Biomedical Research Institute
- Graham Casey
- Center for Public Health Genomics, Department of Public Health Sciences, University of Virginia
- Ulrike Peters
- Public Health Sciences Division, Fred Hutchinson Cancer Center
- Ian Tomlinson
- Edinburgh Cancer Research Centre, Institute of Genomics and Cancer, University of Edinburgh
- Wei Zheng
- Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt Epidemiology Center, Vanderbilt University Medical Center
- DOI
- https://doi.org/10.1038/s41467-024-47399-x
- Journal volume & issue
-
Vol. 15,
no. 1
pp. 1 – 17
Abstract
Abstract Genome-wide association studies (GWAS) have identified more than 200 common genetic variants independently associated with colorectal cancer (CRC) risk, but the causal variants and target genes are mostly unknown. We sought to fine-map all known CRC risk loci using GWAS data from 100,204 cases and 154,587 controls of East Asian and European ancestry. Our stepwise conditional analyses revealed 238 independent association signals of CRC risk, each with a set of credible causal variants (CCVs), of which 28 signals had a single CCV. Our cis-eQTL/mQTL and colocalization analyses using colorectal tissue-specific transcriptome and methylome data separately from 1299 and 321 individuals, along with functional genomic investigation, uncovered 136 putative CRC susceptibility genes, including 56 genes not previously reported. Analyses of single-cell RNA-seq data from colorectal tissues revealed 17 putative CRC susceptibility genes with distinct expression patterns in specific cell types. Analyses of whole exome sequencing data provided additional support for several target genes identified in this study as CRC susceptibility genes. Enrichment analyses of the 136 genes uncover pathways not previously linked to CRC risk. Our study substantially expanded association signals for CRC and provided additional insight into the biological mechanisms underlying CRC development.
