Combining Asian and European genome-wide association studies of colorectal cancer improves risk prediction across racial and ethnic populations
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Published:2023-10-02
Issue:1
Volume:14
Page:
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ISSN:2041-1723
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Container-title:Nature Communications
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language:en
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Short-container-title:Nat Commun
Author:
Thomas MintaORCID, Su Yu-Ru, Rosenthal Elisabeth A.ORCID, Sakoda Lori C.ORCID, Schmit Stephanie L.ORCID, Timofeeva Maria N.ORCID, Chen Zhishan, Fernandez-Rozadilla CeresORCID, Law Philip J.ORCID, Murphy NeilORCID, Carreras-Torres RobertORCID, Diez-Obrero Virginia, van Duijnhoven Franzel J. B., Jiang Shangqing, Shin AesunORCID, Wolk AlicjaORCID, Phipps Amanda I., Burnett-Hartman Andrea, Gsur AndreaORCID, Chan Andrew T.ORCID, Zauber Ann G.ORCID, Wu Anna H., Lindblom Annika, Um Caroline Y.ORCID, Tangen Catherine M., Gignoux ChrisORCID, Newton Christina, Haiman Christopher A., Qu Conghui, Bishop D. TimothyORCID, Buchanan Daniel D.ORCID, Crosslin David R., Conti David V., Kim Dong-Hyun, Hauser Elizabeth, White Emily, Siegel ErinORCID, Schumacher Fredrick R.ORCID, Rennert GadORCID, Giles Graham G.ORCID, Hampel HeatherORCID, Brenner HermannORCID, Oze IsaoORCID, Oh Jae Hwan, Lee Jeffrey K., Schneider Jennifer L., Chang-Claude JennyORCID, Kim JeongseonORCID, Huyghe Jeroen R.ORCID, Zheng JiayinORCID, Hampe JochenORCID, Greenson Joel, Hopper John L., Palmer Julie R., Visvanathan KalaORCID, Matsuo KeitaroORCID, Matsuda KoichiORCID, Jung Keum JiORCID, Li Li, Le Marchand Loic, Vodickova Ludmila, Bujanda LuisORCID, Gunter Marc J., Matejcic Marco, Jenkins Mark A.ORCID, Slattery Martha L., D’Amato Mauro, Wang MeilinORCID, Hoffmeister MichaelORCID, Woods Michael O., Kim Michelle, Song MingyangORCID, Iwasaki Motoki, Du MulongORCID, Udaltsova Natalia, Sawada NorieORCID, Vodicka Pavel, Campbell Peter T., Newcomb Polly A.ORCID, Cai QiuyinORCID, Pearlman Rachel, Pai Rish K., Schoen Robert E.ORCID, Steinfelder Robert S., Haile Robert W.ORCID, Vandenputtelaar Rosita, Prentice Ross L., Küry SébastienORCID, Castellví-Bel SergiORCID, Tsugane ShoichiroORCID, Berndt Sonja I., Lee Soo Chin, Brezina StefanieORCID, Weinstein Stephanie J.ORCID, Chanock Stephen J.ORCID, Jee Sun Ha, Kweon Sun-Seog, Vadaparampil Susan, Harrison Tabitha A.ORCID, Yamaji Taiki, Keku Temitope O., Vymetalkova Veronika, Arndt VolkerORCID, Jia Wei-HuaORCID, Shu Xiao-Ou, Lin Yi, Ahn Yoon-Ok, Stadler Zsofia K.ORCID, Van Guelpen BethanyORCID, Ulrich Cornelia M.ORCID, Platz Elizabeth A.ORCID, Potter John D.ORCID, Li Christopher I., Meester Reinier, Moreno VictorORCID, Figueiredo Jane C., Casey Graham, Lansdorp Vogelaar Iris, Dunlop Malcolm G.ORCID, Gruber Stephen B.ORCID, Hayes Richard B.ORCID, Pharoah Paul D. P.ORCID, Houlston Richard S.ORCID, Jarvik Gail P., Tomlinson Ian P.ORCID, Zheng WeiORCID, Corley Douglas A., Peters UlrikeORCID, Hsu LiORCID
Abstract
AbstractPolygenic 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.
Publisher
Springer Science and Business Media LLC
Subject
General Physics and Astronomy,General Biochemistry, Genetics and Molecular Biology,General Chemistry,Multidisciplinary
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