Title: | Combining Asian and European genome-wide association studies of colorectal cancer improves risk prediction across racial and ethnic populations |
Author: | Thomas, Minta Su, Yu Ru Rosenthal, Elisabeth A. Sakoda, Lori C. Schmit, Stephanie L. Timofeeva, Maria N. Chen, Zhishan Fernandez Rozadilla, Ceres Law, Philip J. Murphy, Neil Carreras Torres, Robert Huyghe, Jeroen R. Zheng, Jiayin Hampe, Jochen Greenson, Joel Song, Mingyang Hopper, John L. Du, Mulong Palmer, Julie R. Sawada, Norie Visvanathan, Kala Campbell, Peter T. Matsuo, Keitaro Matsuda, Koichi Jung, Keum Ji Li, Li Le Marchand, Loic Vodickova, Ludmila Bujanda, Luis Iwasaki, Motoki Udaltsova, Natalia Vodicka, Pavel Newcomb, Polly A. Gunter, Marc J. Matejcic, Marco Jenkins, Mark A. Slattery, Martha L. D’amato, Mauro Wang, Meilin Hoffmeister, Michael Woods, Michael O. Kim, Michelle Cai, Qiuyin Pearlman, Rachel Keku, Temitope O. Pai, Rish K. Arndt, Volker Schoen, Robert E. Shu, Xiao Ou Steinfelder, Robert S. Ahn, Yoon Ok Haile, Robert W. Vandenputtelaar, Rosita Prentice, Ross L. Küry, Sébastien Castellví Bel, Sergi Tsugane, Shoichiro Berndt, Sonja I. Vymetalkova, Veronika Jia, Wei Hua Lin, Yi Stadler, Zsofia K. Lee, Soo Chin Brezina, Stefanie Weinstein, Stephanie J. Chanock, Stephen J. Jee, Sun Ha Kweon, Sun Seog Vadaparampil, Susan Harrison, Tabitha A. Yamaji, Taiki Van Guelpen, Bethany Ulrich, Cornelia M. Diez Obrero, Virginia Platz, Elizabeth A. Jiang, Shangqing Potter, John D. Wolk, Alicja Li, Christopher I. Burnett Hartman, Andrea Meester, Reinier Moreno Aguado, Víctor Figueiredo, Jane C. Casey, Graham Lansdorp Vogelaar, Iris Dunlop, Malcolm G. Gruber, Stephen B. Duijnhoven, Franzel J. B. van Shin, Aesun Phipps, Amanda I. Gsur, Andrea Hayes, Richard B. Pharoah, Paul D. P. Houlston, Richard S. Jarvik, Gail P. Tomlinson, Ian P. Zheng, Wei Corley, Douglas A. Peters, Ulrike Hsu, Li Chan, Andrew T. Zauber, Ann G. Wu, Anna H. Lindblom, Annika Oze, Isao Um, Caroline Y. Lee, Jeffrey K. Tangen, Catherine M. Chang Claude, Jenny Gignoux, Chris Newton, Christina Haiman, Christopher A. Qu, Conghui Bishop, D. Timothy Buchanan, Daniel D. Crosslin, David R. Conti, David V. Oh, Jae Hwan Schneider, Jennifer L. Kim, Jeongseon Kim, Dong Hyun Hauser, Elizabeth White, Emily Siegel, Erin Schumacher, Fredrick R. Rennert, Gad Giles, Graham G. Hampel, Heather Brenner, Hermann |
Keywords: | Càncer colorectal Fenotip Colorectal cancer Phenotype |
Issue Date: | 2-Oct-2023 |
Publisher: | Springer Science and Business Media LLC |
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. |
Note: | Reproducció del document publicat a: https://doi.org/10.1038/s41467-023-41819-0 |
It is part of: | Nature Communications, 2023, vol. 14, num. 1 |
URI: | http://hdl.handle.net/2445/205414 |
Related resource: | https://doi.org/10.1038/s41467-023-41819-0 |
ISSN: | 2041-1723 |
Appears in Collections: | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
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