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

0582293 - ÚEM 2024 RIV US eng J - Journal Article
Thomas, M. - Su, Y.R. - Rosenthal, E.A. - Sakoda, L.C. - Schmit, S.L. - Timofeeva, M.N. - Chen, Z. - Fernandez-Rozadilla, C. - Law, P.J. - Murphy, N. - Carreras-Torres, R. - Diez-Obrero, V. - van Duijnhoven, F.J.B. - Jiang, S. - Shin, A. - Wolk, A. - Phipps, A. - Burnett-Hartman, A. - Gsur, A. - Chan, A.T. - Zauber, A.G. - Wu, A.H. - Lindblom, A. - Um, C.Y. - Tangen, C.M. - Vodičková, Ludmila - Vodička, Pavel - Vymetálková, Veronika … Total 128 authors
Combining Asian and European genome-wide association studies of colorectal cancer improves risk prediction across racial and ethnic populations.
Nature Communications. Roč. 14, č. 1 (2023), č. článku 6147. E-ISSN 2041-1723
Institutional support: RVO:68378041
Keywords : polygenic risk * curves * scores * model * loci
OECD category: Human genetics
Impact factor: 16.6, year: 2022
Method of publishing: Open access
https://www.nature.com/articles/s41467-023-41819-0

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.
Permanent Link: https://hdl.handle.net/11104/0350983