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

Research output: Contribution to journalResearch articleContributedpeer-review

Contributors

  • Minta Thomas - , Fred Hutchinson Cancer Research Center (Author)
  • Yu-Ru Su - , Fred Hutchinson Cancer Research Center (Author)
  • Elisabeth A Rosenthal - , University of Washington Medical Center (Author)
  • Lori C Sakoda - , Fred Hutchinson Cancer Research Center (Author)
  • Stephanie L Schmit - , Italian Institute for Genomic Medicine (IIGM) (Author)
  • Maria N Timofeeva - , University of Southern Denmark (Author)
  • Zhishan Chen - , Vanderbilt University (Author)
  • Ceres Fernandez-Rozadilla - , Foundation Health Research Institute of Santiago de Compostela (Author)
  • Philip J Law - , The Institute of Cancer Reseach (Author)
  • Neil Murphy - , Nutrition and Metabolism Branch (Author)
  • Robert Carreras-Torres - , Girona Biomedical Research Institute (Author)
  • Virginia Diez-Obrero - , Bellvitge Biomedical Research Institute (IDIBELL) (Author)
  • Franzel J B van Duijnhoven - , Wageningen University & Research (WUR) (Author)
  • Shangqing Jiang - , Fred Hutchinson Cancer Research Center (Author)
  • Aesun Shin - , Seoul National University (Author)
  • Alicja Wolk - , Karolinska Institutet (Author)
  • Amanda I Phipps - , Fred Hutchinson Cancer Research Center (Author)
  • Andrea Burnett-Hartman - , Aurum Institute for Health Research (Author)
  • Andrea Gsur - , Medical University of Vienna (Author)
  • Andrew T Chan - , Massachusetts General Hospital (Author)
  • Ann G Zauber - , Memorial Sloan-Kettering Cancer Center (Author)
  • Anna H Wu - , Southern California University of Health Sciences (Author)
  • Annika Lindblom - , Karolinska University Hospital (Author)
  • Caroline Y Um - , American Cancer Society (Author)
  • Catherine M Tangen - , SWOG Statistical Center (Author)
  • Chris Gignoux - , University of Colorado Anschutz Medical Campus (Author)
  • Christina Newton - , American Cancer Society (Author)
  • Christopher A Haiman - , Southern California University of Health Sciences (Author)
  • Conghui Qu - , Fred Hutchinson Cancer Research Center (Author)
  • D Timothy Bishop - , Leeds Trinity University (Author)
  • Daniel D Buchanan - , University of Melbourne (Author)
  • David R Crosslin - , University of Washington Medical Center (Author)
  • David V Conti - , Southern California University of Health Sciences (Author)
  • Dong-Hyun Kim - , Hallym University (Author)
  • Elizabeth Hauser - , VA Cooperative Studies Program Epidemiology Center (Author)
  • Emily White - , Fred Hutchinson Cancer Research Center (Author)
  • Erin Siegel - , H. Lee Moffitt Cancer Center & Research Institute (Author)
  • Fredrick R Schumacher - , Case Western Reserve University (Author)
  • Gad Rennert - , Lady Davis Carmel Medical Center (Author)
  • Graham G Giles - , Cancer Epidemiology Division (Author)
  • Heather Hampel - , The Ohio State University Comprehensive Cancer Center - The James (Author)
  • Hermann Brenner - , German Cancer Research Center (DKFZ) (Author)
  • Isao Oze - , Aichi Cancer Center Hospital and Research Institute (Author)
  • Jae Hwan Oh - , Ottawa Hospital Research Institute (Author)
  • Jeffrey K Lee - , Kaiser Permanente (Author)
  • Jennifer L Schneider - , Kaiser Permanente (Author)
  • Jenny Chang-Claude - , German Cancer Research Center (DKFZ) (Author)
  • Jeongseon Kim - , National Cancer Center Korea (Author)
  • Jeroen R Huyghe - , Fred Hutchinson Cancer Research Center (Author)
  • Jiayin Zheng - , Fred Hutchinson Cancer Research Center (Author)
  • Jochen Hampe - , Department of Internal Medicine I (Author)
  • Joel Greenson - , University of Michigan, Dearborn (UM–Dearborn) (Author)
  • John L Hopper - , University of Melbourne (Author)
  • Julie R Palmer - , University of Massachusetts Boston (Author)
  • Kala Visvanathan - , Johns Hopkins University (Author)
  • Keitaro Matsuo - , Aichi Cancer Center Hospital and Research Institute (Author)
  • Koichi Matsuda - , Tokyo University of Science (Author)
  • Keum Ji Jung - , Yonsei University (Author)
  • Li Li - , West Virginia University (Author)
  • Loic Le Marchand - , University of Hawai'i at Mānoa (Author)
  • Ludmila Vodickova - , Institute of Experimental Medicine of the Czech Academy of Sciences (Author)
  • Luis Bujanda - , Biodonostia Health Research Institute (Author)
  • Marc J Gunter - , Nutrition and Metabolism Branch (Author)
  • Marco Matejcic - , H. Lee Moffitt Cancer Center & Research Institute (Author)
  • Mark A Jenkins - , University of Melbourne (Author)
  • Martha L Slattery - , University of Utah (Author)
  • Mauro D'Amato - , LUM University (Author)
  • Meilin Wang - , Nanjing Medical University (Author)
  • Michael Hoffmeister - , German Cancer Research Center (DKFZ) (Author)
  • Michael O Woods - , Memorial University of Newfoundland (Author)
  • Michelle Kim - , Fred Hutchinson Cancer Research Center (Author)
  • Mingyang Song - , Massachusetts General Hospital (Author)
  • Motoki Iwasaki - , National Cancer Institute (NCI) (Author)
  • Mulong Du - , Nanjing Medical University (Author)
  • Natalia Udaltsova - , Kaiser Permanente (Author)
  • Norie Sawada - , National Cancer Institute (NCI) (Author)
  • Pavel Vodicka - , Institute of Experimental Medicine of the Czech Academy of Sciences (Author)
  • Peter T Campbell - , Albert Einstein College of Medicine (Author)
  • Polly A Newcomb - , Fred Hutchinson Cancer Research Center (Author)
  • Qiuyin Cai - , Vanderbilt University (Author)
  • Rachel Pearlman - , The Ohio State University Comprehensive Cancer Center - The James (Author)
  • Rish K Pai - , Mayo Clinic Rochester, MN (Author)
  • Robert E Schoen - , University of Pittsburgh Medical Center (UPMC) (Author)
  • Robert S Steinfelder - , Fred Hutchinson Cancer Research Center (Author)
  • Robert W Haile - , Samuel Oschin Comprehensive Cancer Institute (Author)
  • Rosita Vandenputtelaar - , Erasmus University Medical Center (Author)
  • Ross L Prentice - , Fred Hutchinson Cancer Research Center (Author)
  • Sébastien Küry - , Université de Nantes (Author)
  • Sergi Castellví-Bel - , International University of Catalonia (Author)
  • Shoichiro Tsugane - , National Cancer Institute (NCI) (Author)
  • Sonja I Berndt - , National Cancer Institute Egypt (Author)
  • Soo Chin Lee - , National University of Singapore (Author)
  • Stefanie Brezina - , Medical University of Vienna (Author)
  • Stephanie J Weinstein - , National Cancer Institute Egypt (Author)
  • Stephen J Chanock - , National Cancer Institute Egypt (Author)
  • Sun Ha Jee - , Yonsei University (Author)
  • Sun-Seog Kweon - , Chonnam National University (Author)
  • Susan Vadaparampil - , Harvard University (Author)
  • Tabitha A Harrison - , Fred Hutchinson Cancer Research Center (Author)
  • Taiki Yamaji - , National Cancer Institute (NCI) (Author)
  • Temitope O Keku - , North Carolina Central University (Author)
  • Veronika Vymetalkova - , Institute of Experimental Medicine of the Czech Academy of Sciences (Author)
  • Volker Arndt - , German Cancer Research Center (DKFZ) (Author)
  • Wei-Hua Jia - , Sun Yat-Sen University (Author)
  • Xiao-Ou Shu - , Vanderbilt University (Author)
  • Yi Lin - , Fred Hutchinson Cancer Research Center (Author)
  • Yoon-Ok Ahn - , Seoul National University (Author)
  • Zsofia K Stadler - , Memorial Sloan-Kettering Cancer Center (Author)
  • Bethany Van Guelpen - , Umeå University (Author)
  • Cornelia M Ulrich - , University of Utah (Author)
  • Elizabeth A Platz - , Johns Hopkins University (Author)
  • John D Potter - , Fred Hutchinson Cancer Research Center (Author)
  • Christopher I Li - , Fred Hutchinson Cancer Research Center (Author)
  • Reinier Meester - , Erasmus University Medical Center (Author)
  • Victor Moreno - , Bellvitge Biomedical Research Institute (IDIBELL) (Author)
  • Jane C Figueiredo - , Southern California University of Health Sciences (Author)
  • Graham Casey - , West Virginia University (Author)
  • Iris Lansdorp Vogelaar - , Erasmus University Medical Center (Author)
  • Malcolm G Dunlop - , Edinburgh Napier University (Author)
  • Stephen B Gruber - , University of Antwerp (Author)
  • Richard B Hayes - , New York University Langone Health (Author)
  • Paul D P Pharoah - , Cambridge University Press (Author)
  • Richard S Houlston - , The Institute of Cancer Reseach (Author)
  • Gail P Jarvik - , University of Washington Medical Center (Author)
  • Ian P Tomlinson - , Edinburgh Napier University (Author)
  • Wei Zheng - , Vanderbilt University (Author)
  • Douglas A Corley - , Kaiser Permanente (Author)
  • Ulrike Peters - , Fred Hutchinson Cancer Research Center (Author)
  • Li Hsu - , Fred Hutchinson Cancer Research Center (Author)

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.

Details

Original languageEnglish
Article number6147
Pages (from-to)6147
JournalNature communications
Volume14
Issue number1
Publication statusPublished - 2 Oct 2023
Peer-reviewedYes

External IDs

PubMedCentral PMC10545678
Scopus 85173730049

Keywords

Sustainable Development Goals

Keywords

  • Humans, Ethnicity/genetics, Genome-Wide Association Study, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Risk Factors, Multifactorial Inheritance, Colorectal Neoplasms/diagnosis