| Title: |
Combining Asian and European genome-wide association studies of colorectal cancer improves risk prediction across racial and ethnic populations |
| Authors: |
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; 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; Huyghe, Jeroen R.; Newton, Christina C.; 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; Zheng, Jiayin; Kim, Dong Hyun; Hauser, Elizabeth; White, Emily; Siegel, Erin M.; Schumacher, Fredrick R.; Rennert, Gad; Giles, Graham G.; Hampel, Heather; Brenner, Hermann; 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 |
| Source: |
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
| Publisher Information: |
Springer Science and Business Media LLC |
| Publication Year: |
2023 |
| Collection: |
Dipòsit Digital de la Universitat de Barcelona |
| Subject Terms: |
Càncer colorectal; Fenotip; Colorectal cancer; Phenotype |
| Description: |
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. |
| Document Type: |
article in journal/newspaper |
| File Description: |
13 p.; application/pdf |
| Language: |
English |
| Relation: |
Reproducció del document publicat a: https://doi.org/10.1038/s41467-023-41819-0; Nature Communications, 2023, vol. 14, num. 1; https://doi.org/10.1038/s41467-023-41819-0; https://hdl.handle.net/2445/205414 |
| Availability: |
https://hdl.handle.net/2445/205414 |
| Rights: |
cc by (c) Thomas, Minta et al., 2023 ; http://creativecommons.org/licenses/by/3.0/es/ ; info:eu-repo/semantics/openAccess |
| Accession Number: |
edsbas.56660BDF |
| Database: |
BASE |