Nature Communications (Oct 2023)
Combining Asian and European genome-wide association studies of colorectal cancer improves risk prediction across racial and ethnic populations
- Minta Thomas,
- Yu-Ru Su,
- Elisabeth A. Rosenthal,
- Lori C. Sakoda,
- Stephanie L. Schmit,
- Maria N. Timofeeva,
- Zhishan Chen,
- Ceres Fernandez-Rozadilla,
- Philip J. Law,
- Neil Murphy,
- Robert Carreras-Torres,
- Virginia Diez-Obrero,
- Franzel J. B. van Duijnhoven,
- Shangqing Jiang,
- Aesun Shin,
- Alicja Wolk,
- Amanda I. Phipps,
- Andrea Burnett-Hartman,
- Andrea Gsur,
- Andrew T. Chan,
- Ann G. Zauber,
- Anna H. Wu,
- Annika Lindblom,
- Caroline Y. Um,
- Catherine M. Tangen,
- Chris Gignoux,
- Christina Newton,
- Christopher A. Haiman,
- Conghui Qu,
- D. Timothy Bishop,
- Daniel D. Buchanan,
- David R. Crosslin,
- David V. Conti,
- Dong-Hyun Kim,
- Elizabeth Hauser,
- Emily White,
- Erin Siegel,
- Fredrick R. Schumacher,
- Gad Rennert,
- Graham G. Giles,
- Heather Hampel,
- Hermann Brenner,
- Isao Oze,
- Jae Hwan Oh,
- Jeffrey K. Lee,
- Jennifer L. Schneider,
- Jenny Chang-Claude,
- Jeongseon Kim,
- Jeroen R. Huyghe,
- Jiayin Zheng,
- Jochen Hampe,
- Joel Greenson,
- John L. Hopper,
- Julie R. Palmer,
- Kala Visvanathan,
- Keitaro Matsuo,
- Koichi Matsuda,
- Keum Ji Jung,
- Li Li,
- Loic Le Marchand,
- Ludmila Vodickova,
- Luis Bujanda,
- Marc J. Gunter,
- Marco Matejcic,
- Mark A. Jenkins,
- Martha L. Slattery,
- Mauro D’Amato,
- Meilin Wang,
- Michael Hoffmeister,
- Michael O. Woods,
- Michelle Kim,
- Mingyang Song,
- Motoki Iwasaki,
- Mulong Du,
- Natalia Udaltsova,
- Norie Sawada,
- Pavel Vodicka,
- Peter T. Campbell,
- Polly A. Newcomb,
- Qiuyin Cai,
- Rachel Pearlman,
- Rish K. Pai,
- Robert E. Schoen,
- Robert S. Steinfelder,
- Robert W. Haile,
- Rosita Vandenputtelaar,
- Ross L. Prentice,
- Sébastien Küry,
- Sergi Castellví-Bel,
- Shoichiro Tsugane,
- Sonja I. Berndt,
- Soo Chin Lee,
- Stefanie Brezina,
- Stephanie J. Weinstein,
- Stephen J. Chanock,
- Sun Ha Jee,
- Sun-Seog Kweon,
- Susan Vadaparampil,
- Tabitha A. Harrison,
- Taiki Yamaji,
- Temitope O. Keku,
- Veronika Vymetalkova,
- Volker Arndt,
- Wei-Hua Jia,
- Xiao-Ou Shu,
- Yi Lin,
- Yoon-Ok Ahn,
- Zsofia K. Stadler,
- Bethany Van Guelpen,
- Cornelia M. Ulrich,
- Elizabeth A. Platz,
- John D. Potter,
- Christopher I. Li,
- Reinier Meester,
- Victor Moreno,
- Jane C. Figueiredo,
- Graham Casey,
- Iris Lansdorp Vogelaar,
- Malcolm G. Dunlop,
- Stephen B. Gruber,
- Richard B. Hayes,
- Paul D. P. Pharoah,
- Richard S. Houlston,
- Gail P. Jarvik,
- Ian P. Tomlinson,
- Wei Zheng,
- Douglas A. Corley,
- Ulrike Peters,
- Li Hsu
Affiliations
- Minta Thomas
- Public Health Sciences Division, Fred Hutchinson Cancer Center
- Yu-Ru Su
- Public Health Sciences Division, Fred Hutchinson Cancer Center
- Elisabeth A. Rosenthal
- Department of Medicine (Medical Genetics), University of Washington Medical Center
- Lori C. Sakoda
- Public Health Sciences Division, Fred Hutchinson Cancer Center
- Stephanie L. Schmit
- Genomic Medicine Institute, Cleveland Clinic
- Maria N. Timofeeva
- Danish Institute for Advanced Study (DIAS), Epidemiology, Biostatistics and Biodemography, Department of Public Health, University of Southern Denmark
- Zhishan Chen
- Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt University Medical Center
- Ceres Fernandez-Rozadilla
- Instituto de Investigacion Sanitaria de Santiago (IDIS), Choupana sn
- Philip J. Law
- Division of Genetics and Epidemiology, The Institute of Cancer Reseach
- Neil Murphy
- Nutrition and Metabolism Branch, International Agency for Research on Cancer, World Health Organization
- Robert Carreras-Torres
- Digestive Diseases and Microbiota Group, Girona Biomedical Research Institute (IDIBGI)
- Virginia Diez-Obrero
- Unit of Biomarkers and Susceptibility, Oncology Data Analytics Program, Catalan Institute of Oncology
- Franzel J. B. van Duijnhoven
- Division of Human Nutrition and Health, Wageningen University & Research
- Shangqing Jiang
- Public Health Sciences Division, Fred Hutchinson Cancer Center
- Aesun Shin
- Department of Preventive Medicine, Seoul National University College of Medicine, Seoul National University Cancer Research Institute
- Alicja Wolk
- Institute of Environmental Medicine, Karolinska Institutet
- Amanda I. Phipps
- Public Health Sciences Division, Fred Hutchinson Cancer Center
- Andrea Burnett-Hartman
- Institute for Health Research, Kaiser Permanente Colorado
- Andrea Gsur
- .Center for Cancer Research, Medical University Vienna
- Andrew T. Chan
- Division of Gastroenterology, Massachusetts General Hospital and Harvard Medical School
- Ann G. Zauber
- Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center
- Anna H. Wu
- University of Southern California, Preventative Medicine
- Annika Lindblom
- Department of Clinical Genetics, Karolinska University Hospital
- Caroline Y. Um
- Department of Population Science, American Cancer Society
- Catherine M. Tangen
- SWOG Statistical Center, Fred Hutchinson Cancer Research Center
- Chris Gignoux
- Colorado Center for Personalized Medicine, University of Colorado - Anschutz Medical Campus
- Christina Newton
- Department of Population Science, American Cancer Society
- Christopher A. Haiman
- Department of Population and Public Health Sciences, Keck School of Medicine, University of Southern California
- Conghui Qu
- Public Health Sciences Division, Fred Hutchinson Cancer Center
- D. Timothy Bishop
- Leeds Institute of Cancer and Pathology, University of Leeds
- Daniel D. Buchanan
- Colorectal Oncogenomics Group, Department of Clinical Pathology, The University of Melbourne
- David R. Crosslin
- Department of Bioinformatics and Medical Education, University of Washington Medical Center
- David V. Conti
- Department of Population and Public Health Sciences, Keck School of Medicine, University of Southern California
- Dong-Hyun Kim
- Department of Social and Preventive Medicine, Hallym University College of Medicine
- Elizabeth Hauser
- VA Cooperative Studies Program Epidemiology Center, Durham Veterans Affairs Health Care System
- Emily White
- Public Health Sciences Division, Fred Hutchinson Cancer Center
- Erin Siegel
- Cancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute
- Fredrick R. Schumacher
- Department of Population and Quantitative Health Sciences, Case Western Reserve University
- Gad Rennert
- Department of Community Medicine and Epidemiology, Lady Davis Carmel Medical Center
- Graham G. Giles
- Cancer Epidemiology Division, Cancer Council Victoria
- Heather Hampel
- Division of Human Genetics, Department of Internal Medicine, The Ohio State University Comprehensive Cancer Center
- Hermann Brenner
- Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ)
- Isao Oze
- .Division of Cancer Epidemiology and Prevention, Aichi Cancer Center Research Institute
- Jae Hwan Oh
- .Research Institute and Hospital, National Cancer Center
- Jeffrey K. Lee
- .Department of Gastroenterology, Kaiser Permanente San Francisco Medical Center
- Jennifer L. Schneider
- Division of Research, Kaiser Permanente Northern California
- Jenny Chang-Claude
- Division of Cancer Epidemiology, German Cancer Research Center (DKFZ)
- Jeongseon Kim
- Department of Cancer Biomedical Science, Graduate School of Cancer Science and Policy, National Cancer Center
- Jeroen R. Huyghe
- Public Health Sciences Division, Fred Hutchinson Cancer Center
- Jiayin Zheng
- Public Health Sciences Division, Fred Hutchinson Cancer Center
- Jochen Hampe
- Department of Medicine I, University Hospital Dresden, Technische Universität Dresden (TU Dresden)
- Joel Greenson
- Department of Pathology, University of Michigan
- John L. Hopper
- Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne
- Julie R. Palmer
- Slone Epidemiology Center, School of Medicine, Boston University
- Kala Visvanathan
- Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health
- Keitaro Matsuo
- Division of Molecular and Clinical Epidemiology, Aichi Cancer Center Research Institute
- Koichi Matsuda
- Laboratory of Clinical Genome Sequencing, Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, University of Tokyo
- Keum Ji Jung
- Institute for Health Promotion, Graduate School of Public Health, Yonsei University
- Li Li
- Department of Family Medicine, University of Virginia
- Loic Le Marchand
- University of Hawaii Cancer Center
- Ludmila Vodickova
- Department of Molecular Biology of Cancer, Institute of Experimental Medicine of the Czech Academy of Sciences
- Luis Bujanda
- Department of Gastroenterology, Biodonostia Health Research Institute, Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Universidad del País Vasco (UPV/EHU)
- Marc J. Gunter
- Nutrition and Metabolism Branch, International Agency for Research on Cancer, World Health Organization
- Marco Matejcic
- Moffitt Cancer Center
- Mark A. Jenkins
- University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre
- Martha L. Slattery
- Department of Internal Medicine, University of Utah
- Mauro D’Amato
- Department of Medicine and Surgery, LUM University
- Meilin Wang
- Department of Environmental Genomics, School of Public Health, Nanjing Medical University
- Michael Hoffmeister
- Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ)
- Michael O. Woods
- Memorial University of Newfoundland, Discipline of Genetics
- Michelle Kim
- Public Health Sciences Division, Fred Hutchinson Cancer Center
- Mingyang Song
- Division of Gastroenterology, Massachusetts General Hospital and Harvard Medical School
- Motoki Iwasaki
- Division of Epidemiology, National Cancer Center Institute for Cancer Control, National Cancer Center
- Mulong Du
- Department of Biostatistics, School of Public Health, Nanjing Medical University
- Natalia Udaltsova
- Division of Research, Kaiser Permanente Northern California
- Norie Sawada
- Division of Cohort Research, National Cancer Center Institute for Cancer Control, National Cancer Center
- Pavel Vodicka
- Department of Molecular Biology of Cancer, Institute of Experimental Medicine of the Czech Academy of Sciences
- Peter T. Campbell
- Department of Epidemiology and Population Health, Albert Einstein College of Medicine
- Polly A. Newcomb
- Public Health Sciences Division, Fred Hutchinson Cancer Center
- Qiuyin Cai
- Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt University Medical Center
- Rachel Pearlman
- Division of Human Genetics, Department of Internal Medicine, The Ohio State University Comprehensive Cancer Center
- Rish K. Pai
- Department of Laboratory Medicine and Pathology, Mayo Clinic Arizona
- Robert E. Schoen
- Department of Medicine and Epidemiology, University of Pittsburgh Medical Center
- Robert S. Steinfelder
- Public Health Sciences Division, Fred Hutchinson Cancer Center
- Robert W. Haile
- Samuel Oschin Comprehensive Cancer Institute, CEDARS-SINAI
- Rosita Vandenputtelaar
- Department of Public Health, Erasmus University Medical Center
- Ross L. Prentice
- Public Health Sciences Division, Fred Hutchinson Cancer Center
- Sébastien Küry
- Nantes Université, CHU Nantes, Service de Génétique Médicale
- Sergi Castellví-Bel
- Gastroenterology Department, Hospital Clínic, Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), University of Barcelona
- Shoichiro Tsugane
- Division of Cohort Research, National Cancer Center Institute for Cancer Control, National Cancer Center
- Sonja I. Berndt
- Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health
- Soo Chin Lee
- National University Cancer Institute
- Stefanie Brezina
- .Center for Cancer Research, Medical University Vienna
- Stephanie J. Weinstein
- Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health
- Stephen J. Chanock
- Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health
- Sun Ha Jee
- 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
- Susan Vadaparampil
- Departments of Epidemiology and Nutrition, Harvard TH Chan School of Public Health
- Tabitha A. Harrison
- Public Health Sciences Division, Fred Hutchinson Cancer Center
- Taiki Yamaji
- Division of Epidemiology, National Cancer Center Institute for Cancer Control, National Cancer Center
- Temitope O. Keku
- Center for Gastrointestinal Biology and Disease, University of North Carolina
- Veronika Vymetalkova
- Department of Molecular Biology of Cancer, Institute of Experimental Medicine of the Czech Academy of Sciences
- Volker Arndt
- Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ)
- Wei-Hua Jia
- State Key Laboratory of Oncology in South China, Cancer Center, Sun Yat-sen University
- Xiao-Ou Shu
- Vanderbilt University Medical Center
- Yi Lin
- Public Health Sciences Division, Fred Hutchinson Cancer Center
- Yoon-Ok Ahn
- Department of Preventive Medicine, Seoul National University College of Medicine, Seoul National University Cancer Research Institute
- Zsofia K. Stadler
- Department of Medicine, Memorial Sloan Kettering Cancer Center
- Bethany Van Guelpen
- Department of Radiation Sciences, Oncology Unit, Umeå University
- Cornelia M. Ulrich
- Huntsman Cancer Institute and Department of Population Health Sciences, University of Utah
- Elizabeth A. Platz
- Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health
- John D. Potter
- Public Health Sciences Division, Fred Hutchinson Cancer Center
- Christopher I. Li
- Public Health Sciences Division, Fred Hutchinson Cancer Center
- Reinier Meester
- Department of Public Health, Erasmus University Medical Center
- Victor Moreno
- Oncology Data Analytics Program, Catalan Institute of Oncology-IDIBELL, L’Hospitalet de Llobregat
- Jane C. Figueiredo
- Department of Population and Public Health Sciences, Keck School of Medicine, University of Southern California
- Graham Casey
- Center for Public Health Genomics, University of Virginia
- Iris Lansdorp Vogelaar
- Department of Public Health, Erasmus 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 & Therapeutics Research, City of Hope National Medical Center
- Richard B. Hayes
- Division of Epidemiology, Department of Population Health, New York University School of Medicine
- Paul D. P. Pharoah
- Department of Public Health and Primary Care, University of Cambridge
- Richard S. Houlston
- Division of Genetics and Epidemiology, The Institute of Cancer Reseach
- Gail P. Jarvik
- Department of Medicine (Medical Genetics), University of Washington Medical Center
- Ian P. Tomlinson
- Edinburgh Cancer Research Centre, Institute of Genomics and Cancer, University of Edinburgh
- Wei Zheng
- Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt University Medical Center
- Douglas A. Corley
- Division of Research, Kaiser Permanente Northern California
- Ulrike Peters
- Public Health Sciences Division, Fred Hutchinson Cancer Center
- Li Hsu
- Public Health Sciences Division, Fred Hutchinson Cancer Center
- DOI
- https://doi.org/10.1038/s41467-023-41819-0
- Journal volume & issue
-
Vol. 14,
no. 1
pp. 1 – 13
Abstract
Abstract Polygenic risk scores (PRS) have great potential to guide precision colorectal cancer (CRC) prevention by identifying those at higher risk to undertake targeted screening. However, current PRS using European ancestry data have sub-optimal performance in non-European ancestry populations, limiting their utility among these populations. Towards addressing this deficiency, we expand PRS development for CRC by incorporating Asian ancestry data (21,731 cases; 47,444 controls) into European ancestry training datasets (78,473 cases; 107,143 controls). The AUC estimates (95% CI) of PRS are 0.63(0.62-0.64), 0.59(0.57-0.61), 0.62(0.60-0.63), and 0.65(0.63-0.66) in independent datasets including 1681-3651 cases and 8696-115,105 controls of Asian, Black/African American, Latinx/Hispanic, and non-Hispanic White, respectively. They are significantly better than the European-centric PRS in all four major US racial and ethnic groups (p-values < 0.05). Further inclusion of non-European ancestry populations, especially Black/African American and Latinx/Hispanic, is needed to improve the risk prediction and enhance equity in applying PRS in clinical practice.
