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Combining Asian and European genome-wide association studies of colorectal cancer improves risk prediction across racial and ethnic populations

Author

Listed:
  • Minta Thomas

    (Fred Hutchinson Cancer Center)

  • Yu-Ru Su

    (Fred Hutchinson Cancer Center
    Kaiser Permanente Washington Health Research Institute)

  • Elisabeth A. Rosenthal

    (University of Washington Medical Center)

  • Lori C. Sakoda

    (Fred Hutchinson Cancer Center
    Kaiser Permanente Northern California)

  • Stephanie L. Schmit

    (Cleveland Clinic
    Case Comprehensive Cancer Center)

  • Maria N. Timofeeva

    (University of Southern Denmark
    University of Edinburgh)

  • Zhishan Chen

    (Vanderbilt University Medical Center)

  • Ceres Fernandez-Rozadilla

    (Choupana sn
    University of Edinburgh)

  • Philip J. Law

    (The Institute of Cancer Reseach)

  • Neil Murphy

    (International Agency for Research on Cancer, World Health Organization)

  • Robert Carreras-Torres

    (Girona Biomedical Research Institute (IDIBGI))

  • Virginia Diez-Obrero

    (Oncology Data Analytics Program, Catalan Institute of Oncology
    Bellvitge Biomedical Research Institute
    University of Barcelona)

  • Franzel J. B. Duijnhoven

    (Wageningen University & Research)

  • Shangqing Jiang

    (Fred Hutchinson Cancer Center)

  • Aesun Shin

    (Seoul National University College of Medicine, Seoul National University Cancer Research Institute)

  • Alicja Wolk

    (Karolinska Institutet)

  • Amanda I. Phipps

    (Fred Hutchinson Cancer Center
    University of Washington)

  • Andrea Burnett-Hartman

    (Kaiser Permanente Colorado)

  • Andrea Gsur

    (Medical University Vienna)

  • Andrew T. Chan

    (Massachusetts General Hospital and Harvard Medical School
    Brigham and Women’s Hospital and Harvard Medical School
    Massachusetts General Hospital and Harvard Medical School
    Broad Institute of Harvard and MIT)

  • Ann G. Zauber

    (Memorial Sloan Kettering Cancer Center)

  • Anna H. Wu

    (University of Southern California, Preventative Medicine)

  • Annika Lindblom

    (Karolinska University Hospital
    Karolinska Institutet)

  • Caroline Y. Um

    (American Cancer Society)

  • Catherine M. Tangen

    (Fred Hutchinson Cancer Research Center)

  • Chris Gignoux

    (University of Colorado - Anschutz Medical Campus)

  • Christina Newton

    (American Cancer Society)

  • Christopher A. Haiman

    (University of Southern California)

  • Conghui Qu

    (Fred Hutchinson Cancer Center)

  • D. Timothy Bishop

    (University of Leeds)

  • Daniel D. Buchanan

    (The University of Melbourne
    Victorian Comprehensive Cancer Centre
    The Royal Melbourne Hospital)

  • David R. Crosslin

    (University of Washington Medical Center)

  • David V. Conti

    (University of Southern California)

  • Dong-Hyun Kim

    (Hallym University College of Medicine)

  • Elizabeth Hauser

    (Durham Veterans Affairs Health Care System
    Duke University Medical Center)

  • Emily White

    (Fred Hutchinson Cancer Center
    University of Washington School of Public Health)

  • Erin Siegel

    (H. Lee Moffitt Cancer Center and Research Institute)

  • Fredrick R. Schumacher

    (Case Western Reserve University)

  • Gad Rennert

    (Lady Davis Carmel Medical Center
    Technion-Israel Institute of Technology)

  • Graham G. Giles

    (Cancer Council Victoria)

  • Heather Hampel

    (The Ohio State University Comprehensive Cancer Center)

  • Hermann Brenner

    (German Cancer Research Center (DKFZ)
    German Cancer Research Center (DKFZ) and National Center for Tumor Diseases (NCT))

  • Isao Oze

    (Aichi Cancer Center Research Institute)

  • Jae Hwan Oh

    (National Cancer Center)

  • Jeffrey K. Lee

    (Kaiser Permanente San Francisco Medical Center
    University of Michigan)

  • Jennifer L. Schneider

    (Kaiser Permanente Northern California)

  • Jenny Chang-Claude

    (German Cancer Research Center (DKFZ)
    University Cancer Centre Hamburg (UCCH))

  • Jeongseon Kim

    (Graduate School of Cancer Science and Policy, National Cancer Center)

  • Jeroen R. Huyghe

    (Fred Hutchinson Cancer Center)

  • Jiayin Zheng

    (Fred Hutchinson Cancer Center)

  • Jochen Hampe

    (University Hospital Dresden, Technische Universität Dresden (TU Dresden))

  • Joel Greenson

    (University of Michigan)

  • John L. Hopper

    (The University of Melbourne
    Seoul National University)

  • Julie R. Palmer

    (Boston University)

  • Kala Visvanathan

    (Johns Hopkins Bloomberg School of Public Health)

  • Keitaro Matsuo

    (Aichi Cancer Center Research Institute)

  • Koichi Matsuda

    (Graduate School of Frontier Sciences, University of Tokyo)

  • Keum Ji Jung

    (Yonsei University)

  • Li Li

    (University of Virginia)

  • Loic Marchand

    (University of Hawaii Cancer Center)

  • Ludmila Vodickova

    (Institute of Experimental Medicine of the Czech Academy of Sciences
    Charles University
    Charles University)

  • Luis Bujanda

    (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

    (International Agency for Research on Cancer, World Health Organization)

  • Marco Matejcic

    (Moffitt Cancer Center)

  • Mark A. Jenkins

    (Victorian Comprehensive Cancer Centre
    The University of Melbourne)

  • Martha L. Slattery

    (University of Utah)

  • Mauro D’Amato

    (LUM University
    CIC bioGUNE-BRTA)

  • Meilin Wang

    (Nanjing Medical University)

  • Michael Hoffmeister

    (German Cancer Research Center (DKFZ))

  • Michael O. Woods

    (Memorial University of Newfoundland, Discipline of Genetics)

  • Michelle Kim

    (Fred Hutchinson Cancer Center)

  • Mingyang Song

    (Massachusetts General Hospital and Harvard Medical School
    Massachusetts General Hospital and Harvard Medical School
    Harvard TH Chan School of Public Health)

  • Motoki Iwasaki

    (National Cancer Center Institute for Cancer Control, National Cancer Center
    National Cancer Center Institute for Cancer Control, National Cancer Center)

  • Mulong Du

    (Nanjing Medical University
    Harvard T.H. Chan School of Public Health)

  • Natalia Udaltsova

    (Kaiser Permanente Northern California)

  • Norie Sawada

    (National Cancer Center Institute for Cancer Control, National Cancer Center)

  • Pavel Vodicka

    (Institute of Experimental Medicine of the Czech Academy of Sciences
    Charles University)

  • Peter T. Campbell

    (Albert Einstein College of Medicine)

  • Polly A. Newcomb

    (Fred Hutchinson Cancer Center)

  • Qiuyin Cai

    (Vanderbilt University Medical Center)

  • Rachel Pearlman

    (The Ohio State University Comprehensive Cancer Center)

  • Rish K. Pai

    (Mayo Clinic Arizona)

  • Robert E. Schoen

    (University of Pittsburgh Medical Center)

  • Robert S. Steinfelder

    (Fred Hutchinson Cancer Center)

  • Robert W. Haile

    (CEDARS-SINAI)

  • Rosita Vandenputtelaar

    (Erasmus University Medical Center)

  • Ross L. Prentice

    (Fred Hutchinson Cancer Center)

  • Sébastien Küry

    (Service de Génétique Médicale)

  • Sergi Castellví-Bel

    (University of Barcelona)

  • Shoichiro Tsugane

    (National Cancer Center Institute for Cancer Control, National Cancer Center)

  • Sonja I. Berndt

    (National Cancer Institute, National Institutes of Health)

  • Soo Chin Lee

    (National University Cancer Institute)

  • Stefanie Brezina

    (Medical University Vienna)

  • Stephanie J. Weinstein

    (National Cancer Institute, National Institutes of Health)

  • Stephen J. Chanock

    (National Cancer Institute, National Institutes of Health)

  • Sun Ha Jee

    (Yonsei University)

  • Sun-Seog Kweon

    (Chonnam National University Medical School
    Chonnam National University Hwasun Hospital)

  • Susan Vadaparampil

    (Harvard TH Chan School of Public Health)

  • Tabitha A. Harrison

    (Fred Hutchinson Cancer Center)

  • Taiki Yamaji

    (National Cancer Center Institute for Cancer Control, National Cancer Center)

  • Temitope O. Keku

    (University of North Carolina)

  • Veronika Vymetalkova

    (Institute of Experimental Medicine of the Czech Academy of Sciences
    Charles University)

  • Volker Arndt

    (German Cancer Research Center (DKFZ))

  • Wei-Hua Jia

    (Sun Yat-sen University)

  • Xiao-Ou Shu

    (Vanderbilt University Medical Center)

  • Yi Lin

    (Fred Hutchinson Cancer Center)

  • Yoon-Ok Ahn

    (Seoul National University College of Medicine, Seoul National University Cancer Research Institute)

  • Zsofia K. Stadler

    (Memorial Sloan Kettering Cancer Center)

  • Bethany Guelpen

    (Umeå University
    Umeå University)

  • Cornelia M. Ulrich

    (University of Utah)

  • Elizabeth A. Platz

    (Johns Hopkins Bloomberg School of Public Health)

  • John D. Potter

    (Fred Hutchinson Cancer Center)

  • Christopher I. Li

    (Fred Hutchinson Cancer Center)

  • Reinier Meester

    (Erasmus University Medical Center)

  • Victor Moreno

    (L’Hospitalet de Llobregat
    CIBER Epidemiología y Salud Pública (CIBERESP)
    University of Barcelona
    L’Hospitalet de Llobregat)

  • Jane C. Figueiredo

    (University of Southern California
    Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center)

  • Graham Casey

    (University of Virginia)

  • Iris Lansdorp Vogelaar

    (Erasmus University Medical Center)

  • Malcolm G. Dunlop

    (University of Edinburgh)

  • Stephen B. Gruber

    (City of Hope National Medical Center)

  • Richard B. Hayes

    (New York University School of Medicine)

  • Paul D. P. Pharoah

    (University of Cambridge)

  • Richard S. Houlston

    (The Institute of Cancer Reseach)

  • Gail P. Jarvik

    (University of Washington Medical Center)

  • Ian P. Tomlinson

    (University of Edinburgh)

  • Wei Zheng

    (Vanderbilt University Medical Center)

  • Douglas A. Corley

    (Kaiser Permanente Northern California
    Kaiser Permanente Medical Center)

  • Ulrike Peters

    (Fred Hutchinson Cancer Center
    University of Washington)

  • Li Hsu

    (Fred Hutchinson Cancer Center
    University of Washington)

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

Suggested Citation

  • 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-, 2023. "Combining Asian and European genome-wide association studies of colorectal cancer improves risk prediction across racial and ethnic populations," Nature Communications, Nature, vol. 14(1), pages 1-13, December.
    • Handle: RePEc:nat:natcom:v:14:y:2023:i:1:d:10.1038_s41467-023-41819-0
    DOI: 10.1038/s41467-023-41819-0
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    References listed on IDEAS

    as
    1. Shuang Song & Wei Jiang & Lin Hou & Hongyu Zhao, 2020. "Leveraging effect size distributions to improve polygenic risk scores derived from summary statistics of genome-wide association studies," PLOS Computational Biology, Public Library of Science, vol. 16(2), pages 1-18, February.
    2. Philip J. Law & Maria Timofeeva & Ceres Fernandez-Rozadilla & Peter Broderick & James Studd & Juan Fernandez-Tajes & Susan Farrington & Victoria Svinti & Claire Palles & Giulia Orlando & Amit Sud & Am, 2019. "Association analyses identify 31 new risk loci for colorectal cancer susceptibility," Nature Communications, Nature, vol. 10(1), pages 1-15, December.
    3. Patrick J. Heagerty & Thomas Lumley & Margaret S. Pepe, 2000. "Time-Dependent ROC Curves for Censored Survival Data and a Diagnostic Marker," Biometrics, The International Biometric Society, vol. 56(2), pages 337-344, June.
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