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. 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 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 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 () and Li Hsu ()
Additional contact information
Minta Thomas: Fred Hutchinson Cancer Center
Yu-Ru Su: Fred Hutchinson Cancer Center
Elisabeth A. Rosenthal: University of Washington Medical Center
Lori C. Sakoda: Fred Hutchinson Cancer Center
Stephanie L. Schmit: Cleveland Clinic
Maria N. Timofeeva: University of Southern Denmark
Zhishan Chen: Vanderbilt University Medical Center
Ceres Fernandez-Rozadilla: Choupana sn
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
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
Andrea Burnett-Hartman: Kaiser Permanente Colorado
Andrea Gsur: Medical University Vienna
Andrew T. Chan: Massachusetts General Hospital and Harvard Medical School
Ann G. Zauber: Memorial Sloan Kettering Cancer Center
Anna H. Wu: University of Southern California, Preventative Medicine
Annika Lindblom: Karolinska University Hospital
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
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
Emily White: Fred Hutchinson Cancer Center
Erin Siegel: H. Lee Moffitt Cancer Center and Research Institute
Fredrick R. Schumacher: Case Western Reserve University
Gad Rennert: Lady Davis Carmel Medical Center
Graham G. Giles: Cancer Council Victoria
Heather Hampel: The Ohio State University Comprehensive Cancer Center
Hermann Brenner: German Cancer Research Center (DKFZ)
Isao Oze: Aichi Cancer Center Research Institute
Jae Hwan Oh: National Cancer Center
Jeffrey K. Lee: Kaiser Permanente San Francisco Medical Center
Jennifer L. Schneider: Kaiser Permanente Northern California
Jenny Chang-Claude: German Cancer Research Center (DKFZ)
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
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
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
Martha L. Slattery: University of Utah
Mauro D’Amato: LUM University
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
Motoki Iwasaki: National Cancer Center Institute for Cancer Control, National Cancer Center
Mulong Du: Nanjing Medical University
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
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
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
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
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
Jane C. Figueiredo: University of Southern California
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
Ulrike Peters: Fred Hutchinson Cancer Center
Li Hsu: Fred Hutchinson Cancer Center

Nature Communications, 2023, vol. 14, issue 1, 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

Date: 2023
References: View references in EconPapers View complete reference list from CitEc
Citations: View citations in EconPapers (1)

Downloads: (external link)
https://www.nature.com/articles/s41467-023-41819-0 Abstract (text/html)

Related works:
This item may be available elsewhere in EconPapers: Search for items with the same title.

Export reference: BibTeX RIS (EndNote, ProCite, RefMan) HTML/Text

Persistent link: https://EconPapers.repec.org/RePEc:nat:natcom:v:14:y:2023:i:1:d:10.1038_s41467-023-41819-0

Ordering information: This journal article can be ordered from
https://www.nature.com/ncomms/

DOI: 10.1038/s41467-023-41819-0

Access Statistics for this article

Nature Communications is currently edited by Nathalie Le Bot, Enda Bergin and Fiona Gillespie

More articles in Nature Communications from Nature
Bibliographic data for series maintained by Sonal Shukla () and Springer Nature Abstracting and Indexing ().