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

Thomas, M.; Su, Y.-R.; Rosenthal, E.A.; Sakoda, L.C.; Schmit, S.L.; Timofeeva, M.N.; Chen, Z.; Fernández Rozadilla, Ceres; Law, P.J.; Murphy, N.; Carreras-Torres, R.; Diez-Obrero, V.; van Duijnhoven, F.J.B.; Jiang, S.; Shin, A.; Wolk, A.; Phipps, A.I.; Burnett-Hartman, A.; Gsur, A.; Chan, A.T.; Zauber, A.G.; Wu, A.H.; Lindblom, A.; Um, C.Y.; Tangen, C.M.; Gignoux, C.; Newton, C.; Haiman, C.A.; Qu, C.; Bishop, D.T.; Buchanan, D.D.; Crosslin, D.R.; Conti, D.V.; Kim, D.-H.; Hauser, E.; White, E.; Siegel, E.; Schumacher, F.R.; Rennert, G.; Giles, G.G.; Hampel, H.; Brenner, H.; Oze, I.; Oh, J.H.; Lee, J.K.; Schneider, J.L.; Chang-Claude, J.; Kim, J.; Huyghe, J.R.; Zheng, J.; Hampe, J.; Greenson, J.; Hopper, J.L.; Palmer, J.R.; Visvanathan, K.; Matsuo, K.; Matsuda, K.; Jung, K.J.; Li, L.; Le Marchand, L.; Vodickova, L.; Bujanda, L.; Gunter, M.J.; Matejcic, M.; Jenkins, M.A.; Slattery, M.L.; D'Amato, M.; Wang, M.; Hoffmeister, M.; Woods, M.O.; Kim, M.; Song, M.; Iwasaki, M.; Du, M.; Udaltsova, N.; Sawada, N.; Vodicka, P.; Campbell, P.T.; Newcomb, P.A.; Cai, Q.; Pearlman, R.; Pai, R.K.; Schoen, R.E.; Steinfelder, R.S.; Haile, R.W.; Vandenputtelaar, R.; Prentice, R.L.; Küry, S.; Castellví-Bel, S.; Tsugane, S.; Berndt, S.I.; Lee, S.C.; Brezina, S.; Weinstein, S.J.; Chanock, S.J.; Jee, S.H.; Kweon, S.-S.; Vadaparampil, S.; Harrison, T.A.; Yamaji, T.; Keku, T.O.; Vymetalkova, V.; Arndt, V.; Jia, W.-H.; Shu, X.-O.; Lin, Y.; Ahn, Y.-O.; Stadler, Z.K.; Van Guelpen, B.; Ulrich, C.M.; Platz, E.A.; Potter, J.D.; Li, C.I.; Meester, R.; Moreno, V.; Figueiredo, J.C.; Casey, G.; Lansdorp Vogelaar, I.; Dunlop, M.G.; Gruber, S.B.; Hayes, R.B.; Pharoah, P.D.P.; Houlston, R.S.; Jarvik, G.P.; Tomlinson, I.P.; Zheng, W.; Corley, D.A.; Peters, U.; Hsu, L.

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

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 th...

Descripción completa

Detalles Bibliográficos
Autores:	Thomas, M., Su, Y.-R., Rosenthal, E.A., Sakoda, L.C., Schmit, S.L., Timofeeva, M.N., Chen, Z., Fernández Rozadilla, Ceres, Law, P.J., Murphy, N., Carreras-Torres, R., Diez-Obrero, V., van Duijnhoven, F.J.B., Jiang, S., Shin, A., Wolk, A., Phipps, A.I., Burnett-Hartman, A., Gsur, A., Chan, A.T., Zauber, A.G., Wu, A.H., Lindblom, A., Um, C.Y., Tangen, C.M., Gignoux, C., Newton, C., Haiman, C.A., Qu, C., Bishop, D.T., Buchanan, D.D., Crosslin, D.R., Conti, D.V., Kim, D.-H., Hauser, E., White, E., Siegel, E., Schumacher, F.R., Rennert, G., Giles, G.G., Hampel, H., Brenner, H., Oze, I., Oh, J.H., Lee, J.K., Schneider, J.L., Chang-Claude, J., Kim, J., Huyghe, J.R., Zheng, J., Hampe, J., Greenson, J., Hopper, J.L., Palmer, J.R., Visvanathan, K., Matsuo, K., Matsuda, K., Jung, K.J., Li, L., Le Marchand, L., Vodickova, L., Bujanda, L., Gunter, M.J., Matejcic, M., Jenkins, M.A., Slattery, M.L., D'Amato, M., Wang, M., Hoffmeister, M., Woods, M.O., Kim, M., Song, M., Iwasaki, M., Du, M., Udaltsova, N., Sawada, N., Vodicka, P., Campbell, P.T., Newcomb, P.A., Cai, Q., Pearlman, R., Pai, R.K., Schoen, R.E., Steinfelder, R.S., Haile, R.W., Vandenputtelaar, R., Prentice, R.L., Küry, S., Castellví-Bel, S., Tsugane, S., Berndt, S.I., Lee, S.C., Brezina, S., Weinstein, S.J., Chanock, S.J., Jee, S.H., Kweon, S.-S., Vadaparampil, S., Harrison, T.A., Yamaji, T., Keku, T.O., Vymetalkova, V., Arndt, V., Jia, W.-H., Shu, X.-O., Lin, Y., Ahn, Y.-O., Stadler, Z.K., Van Guelpen, B., Ulrich, C.M., Platz, E.A., Potter, J.D., Li, C.I., Meester, R., Moreno, V., Figueiredo, J.C., Casey, G., Lansdorp Vogelaar, I., Dunlop, M.G., Gruber, S.B., Hayes, R.B., Pharoah, P.D.P., Houlston, R.S., Jarvik, G.P., Tomlinson, I.P., Zheng, W., Corley, D.A., Peters, U., Hsu, L.
Tipo de recurso:	artículo
Fecha de publicación:	2023
País:	España
Institución:	Servizo Galego de Saúde (SERGAS)
Repositorio:	RUNA. Repositorio da Consellería de Sanidade e Sergas
OAI Identifier:	oai:runa.sergas.gal:20.500.11940/21244
Acceso en línea:	https://portalcientifico.sergas.gal//documentos/65351b027bba975a1caae51c http://hdl.handle.net/20.500.11940/21244
Access Level:	acceso abierto
Palabra clave:	Humans Ethnicity Genome-Wide Association Study Genetic Predisposition to Disease Polymorphism, Single Nucleotide Risk Factors Multifactorial Inheritance Colorectal Neoplasms FPGMX

id	ES_705bb9af49eeb2ca4bc19ddce7cb5173
oai_identifier_str	oai:runa.sergas.gal:20.500.11940/21244
network_acronym_str	ES
network_name_str	España
repository_id_str
spelling	Combining Asian and European genome-wide association studies of colorectal cancer improves risk prediction across racial and ethnic populationsThomas, M.Su, Y.-R.Rosenthal, E.A.Sakoda, L.C.Schmit, S.L.Timofeeva, M.N.Chen, Z.Fernández Rozadilla, CeresLaw, P.J.Murphy, N.Carreras-Torres, R.Diez-Obrero, V.van Duijnhoven, F.J.B.Jiang, S.Shin, A.Wolk, A.Phipps, A.I.Burnett-Hartman, A.Gsur, A.Chan, A.T.Zauber, A.G.Wu, A.H.Lindblom, A.Um, C.Y.Tangen, C.M.Gignoux, C.Newton, C.Haiman, C.A.Qu, C.Bishop, D.T.Buchanan, D.D.Crosslin, D.R.Conti, D.V.Kim, D.-H.Hauser, E.White, E.Siegel, E.Schumacher, F.R.Rennert, G.Giles, G.G.Hampel, H.Brenner, H.Oze, I.Oh, J.H.Lee, J.K.Schneider, J.L.Chang-Claude, J.Kim, J.Huyghe, J.R.Zheng, J.Hampe, J.Greenson, J.Hopper, J.L.Palmer, J.R.Visvanathan, K.Matsuo, K.Matsuda, K.Jung, K.J.Li, L.Le Marchand, L.Vodickova, L.Bujanda, L.Gunter, M.J.Matejcic, M.Jenkins, M.A.Slattery, M.L.D'Amato, M.Wang, M.Hoffmeister, M.Woods, M.O.Kim, M.Song, M.Iwasaki, M.Du, M.Udaltsova, N.Sawada, N.Vodicka, P.Campbell, P.T.Newcomb, P.A.Cai, Q.Pearlman, R.Pai, R.K.Schoen, R.E.Steinfelder, R.S.Haile, R.W.Vandenputtelaar, R.Prentice, R.L.Küry, S.Castellví-Bel, S.Tsugane, S.Berndt, S.I.Lee, S.C.Brezina, S.Weinstein, S.J.Chanock, S.J.Jee, S.H.Kweon, S.-S.Vadaparampil, S.Harrison, T.A.Yamaji, T.Keku, T.O.Vymetalkova, V.Arndt, V.Jia, W.-H.Shu, X.-O.Lin, Y.Ahn, Y.-O.Stadler, Z.K.Van Guelpen, B.Ulrich, C.M.Platz, E.A.Potter, J.D.Li, C.I.Meester, R.Moreno, V.Figueiredo, J.C.Casey, G.Lansdorp Vogelaar, I.Dunlop, M.G.Gruber, S.B.Hayes, R.B.Pharoah, P.D.P.Houlston, R.S.Jarvik, G.P.Tomlinson, I.P.Zheng, W.Corley, D.A.Peters, U.Hsu, L.HumansEthnicityGenome-Wide Association StudyGenetic Predisposition to DiseasePolymorphism, Single NucleotideRisk FactorsMultifactorial InheritanceColorectal NeoplasmsFPGMXPolygenic 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.National Cancer Institute, National Human Genome Research Institute (R01 CA244588 (Ulrike Peters), U01 CA164930 (Ulrike Peters), U01 CA137088 (Ulrike Peters), R01 CA059045 (Ulrike Peters), R01 CA201407 (Ulrike Peters), R01 CA206279 (Ulrike Peters), U01 CA261339 (David V Conti), R01 CA185094 (Ulrike Peters), U01 HG008657 (Gail P. Jarvik)).2023info:eu-repo/semantics/articlehttps://portalcientifico.sergas.gal//documentos/65351b027bba975a1caae51chttp://hdl.handle.net/20.500.11940/21244reponame:RUNA. Repositorio da Consellería de Sanidade e Sergasinstname:Servizo Galego de Saúde (SERGAS)Ingléshttp://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:runa.sergas.gal:20.500.11940/212442026-06-12T08:40:47Z
dc.title.none.fl_str_mv	Combining Asian and European genome-wide association studies of colorectal cancer improves risk prediction across racial and ethnic populations
title	Combining Asian and European genome-wide association studies of colorectal cancer improves risk prediction across racial and ethnic populations
spellingShingle	Combining Asian and European genome-wide association studies of colorectal cancer improves risk prediction across racial and ethnic populations Thomas, M. Humans Ethnicity Genome-Wide Association Study Genetic Predisposition to Disease Polymorphism, Single Nucleotide Risk Factors Multifactorial Inheritance Colorectal Neoplasms FPGMX
title_short	Combining Asian and European genome-wide association studies of colorectal cancer improves risk prediction across racial and ethnic populations
title_full	Combining Asian and European genome-wide association studies of colorectal cancer improves risk prediction across racial and ethnic populations
title_fullStr	Combining Asian and European genome-wide association studies of colorectal cancer improves risk prediction across racial and ethnic populations
title_full_unstemmed	Combining Asian and European genome-wide association studies of colorectal cancer improves risk prediction across racial and ethnic populations
title_sort	Combining Asian and European genome-wide association studies of colorectal cancer improves risk prediction across racial and ethnic populations
dc.creator.none.fl_str_mv	Thomas, M. Su, Y.-R. Rosenthal, E.A. Sakoda, L.C. Schmit, S.L. Timofeeva, M.N. Chen, Z. Fernández Rozadilla, Ceres Law, P.J. Murphy, N. Carreras-Torres, R. Diez-Obrero, V. van Duijnhoven, F.J.B. Jiang, S. Shin, A. Wolk, A. Phipps, A.I. Burnett-Hartman, A. Gsur, A. Chan, A.T. Zauber, A.G. Wu, A.H. Lindblom, A. Um, C.Y. Tangen, C.M. Gignoux, C. Newton, C. Haiman, C.A. Qu, C. Bishop, D.T. Buchanan, D.D. Crosslin, D.R. Conti, D.V. Kim, D.-H. Hauser, E. White, E. Siegel, E. Schumacher, F.R. Rennert, G. Giles, G.G. Hampel, H. Brenner, H. Oze, I. Oh, J.H. Lee, J.K. Schneider, J.L. Chang-Claude, J. Kim, J. Huyghe, J.R. Zheng, J. Hampe, J. Greenson, J. Hopper, J.L. Palmer, J.R. Visvanathan, K. Matsuo, K. Matsuda, K. Jung, K.J. Li, L. Le Marchand, L. Vodickova, L. Bujanda, L. Gunter, M.J. Matejcic, M. Jenkins, M.A. Slattery, M.L. D'Amato, M. Wang, M. Hoffmeister, M. Woods, M.O. Kim, M. Song, M. Iwasaki, M. Du, M. Udaltsova, N. Sawada, N. Vodicka, P. Campbell, P.T. Newcomb, P.A. Cai, Q. Pearlman, R. Pai, R.K. Schoen, R.E. Steinfelder, R.S. Haile, R.W. Vandenputtelaar, R. Prentice, R.L. Küry, S. Castellví-Bel, S. Tsugane, S. Berndt, S.I. Lee, S.C. Brezina, S. Weinstein, S.J. Chanock, S.J. Jee, S.H. Kweon, S.-S. Vadaparampil, S. Harrison, T.A. Yamaji, T. Keku, T.O. Vymetalkova, V. Arndt, V. Jia, W.-H. Shu, X.-O. Lin, Y. Ahn, Y.-O. Stadler, Z.K. Van Guelpen, B. Ulrich, C.M. Platz, E.A. Potter, J.D. Li, C.I. Meester, R. Moreno, V. Figueiredo, J.C. Casey, G. Lansdorp Vogelaar, I. Dunlop, M.G. Gruber, S.B. Hayes, R.B. Pharoah, P.D.P. Houlston, R.S. Jarvik, G.P. Tomlinson, I.P. Zheng, W. Corley, D.A. Peters, U. Hsu, L.
author	Thomas, M.
author_facet	Thomas, M. Su, Y.-R. Rosenthal, E.A. Sakoda, L.C. Schmit, S.L. Timofeeva, M.N. Chen, Z. Fernández Rozadilla, Ceres Law, P.J. Murphy, N. Carreras-Torres, R. Diez-Obrero, V. van Duijnhoven, F.J.B. Jiang, S. Shin, A. Wolk, A. Phipps, A.I. Burnett-Hartman, A. Gsur, A. Chan, A.T. Zauber, A.G. Wu, A.H. Lindblom, A. Um, C.Y. Tangen, C.M. Gignoux, C. Newton, C. Haiman, C.A. Qu, C. Bishop, D.T. Buchanan, D.D. Crosslin, D.R. Conti, D.V. Kim, D.-H. Hauser, E. White, E. Siegel, E. Schumacher, F.R. Rennert, G. Giles, G.G. Hampel, H. Brenner, H. Oze, I. Oh, J.H. Lee, J.K. Schneider, J.L. Chang-Claude, J. Kim, J. Huyghe, J.R. Zheng, J. Hampe, J. Greenson, J. Hopper, J.L. Palmer, J.R. Visvanathan, K. Matsuo, K. Matsuda, K. Jung, K.J. Li, L. Le Marchand, L. Vodickova, L. Bujanda, L. Gunter, M.J. Matejcic, M. Jenkins, M.A. Slattery, M.L. D'Amato, M. Wang, M. Hoffmeister, M. Woods, M.O. Kim, M. Song, M. Iwasaki, M. Du, M. Udaltsova, N. Sawada, N. Vodicka, P. Campbell, P.T. Newcomb, P.A. Cai, Q. Pearlman, R. Pai, R.K. Schoen, R.E. Steinfelder, R.S. Haile, R.W. Vandenputtelaar, R. Prentice, R.L. Küry, S. Castellví-Bel, S. Tsugane, S. Berndt, S.I. Lee, S.C. Brezina, S. Weinstein, S.J. Chanock, S.J. Jee, S.H. Kweon, S.-S. Vadaparampil, S. Harrison, T.A. Yamaji, T. Keku, T.O. Vymetalkova, V. Arndt, V. Jia, W.-H. Shu, X.-O. Lin, Y. Ahn, Y.-O. Stadler, Z.K. Van Guelpen, B. Ulrich, C.M. Platz, E.A. Potter, J.D. Li, C.I. Meester, R. Moreno, V. Figueiredo, J.C. Casey, G. Lansdorp Vogelaar, I. Dunlop, M.G. Gruber, S.B. Hayes, R.B. Pharoah, P.D.P. Houlston, R.S. Jarvik, G.P. Tomlinson, I.P. Zheng, W. Corley, D.A. Peters, U. Hsu, L.
author_role	author
author2	Su, Y.-R. Rosenthal, E.A. Sakoda, L.C. Schmit, S.L. Timofeeva, M.N. Chen, Z. Fernández Rozadilla, Ceres Law, P.J. Murphy, N. Carreras-Torres, R. Diez-Obrero, V. van Duijnhoven, F.J.B. Jiang, S. Shin, A. Wolk, A. Phipps, A.I. Burnett-Hartman, A. Gsur, A. Chan, A.T. Zauber, A.G. Wu, A.H. Lindblom, A. Um, C.Y. Tangen, C.M. Gignoux, C. Newton, C. Haiman, C.A. Qu, C. Bishop, D.T. Buchanan, D.D. Crosslin, D.R. Conti, D.V. Kim, D.-H. Hauser, E. White, E. Siegel, E. Schumacher, F.R. Rennert, G. Giles, G.G. Hampel, H. Brenner, H. Oze, I. Oh, J.H. Lee, J.K. Schneider, J.L. Chang-Claude, J. Kim, J. Huyghe, J.R. Zheng, J. Hampe, J. Greenson, J. Hopper, J.L. Palmer, J.R. Visvanathan, K. Matsuo, K. Matsuda, K. Jung, K.J. Li, L. Le Marchand, L. Vodickova, L. Bujanda, L. Gunter, M.J. Matejcic, M. Jenkins, M.A. Slattery, M.L. D'Amato, M. Wang, M. Hoffmeister, M. Woods, M.O. Kim, M. Song, M. Iwasaki, M. Du, M. Udaltsova, N. Sawada, N. Vodicka, P. Campbell, P.T. Newcomb, P.A. Cai, Q. Pearlman, R. Pai, R.K. Schoen, R.E. Steinfelder, R.S. Haile, R.W. Vandenputtelaar, R. Prentice, R.L. Küry, S. Castellví-Bel, S. Tsugane, S. Berndt, S.I. Lee, S.C. Brezina, S. Weinstein, S.J. Chanock, S.J. Jee, S.H. Kweon, S.-S. Vadaparampil, S. Harrison, T.A. Yamaji, T. Keku, T.O. Vymetalkova, V. Arndt, V. Jia, W.-H. Shu, X.-O. Lin, Y. Ahn, Y.-O. Stadler, Z.K. Van Guelpen, B. Ulrich, C.M. Platz, E.A. Potter, J.D. Li, C.I. Meester, R. Moreno, V. Figueiredo, J.C. Casey, G. Lansdorp Vogelaar, I. Dunlop, M.G. Gruber, S.B. Hayes, R.B. Pharoah, P.D.P. Houlston, R.S. Jarvik, G.P. Tomlinson, I.P. Zheng, W. Corley, D.A. Peters, U. Hsu, L.
author2_role	author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author
dc.subject.none.fl_str_mv	Humans Ethnicity Genome-Wide Association Study Genetic Predisposition to Disease Polymorphism, Single Nucleotide Risk Factors Multifactorial Inheritance Colorectal Neoplasms FPGMX
topic	Humans Ethnicity Genome-Wide Association Study Genetic Predisposition to Disease Polymorphism, Single Nucleotide Risk Factors Multifactorial Inheritance Colorectal Neoplasms FPGMX
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.
publishDate	2023
dc.date.none.fl_str_mv	2023
dc.type.none.fl_str_mv	info:eu-repo/semantics/article
format	article
dc.identifier.none.fl_str_mv	https://portalcientifico.sergas.gal//documentos/65351b027bba975a1caae51c http://hdl.handle.net/20.500.11940/21244
url	https://portalcientifico.sergas.gal//documentos/65351b027bba975a1caae51c http://hdl.handle.net/20.500.11940/21244
dc.language.none.fl_str_mv	Inglés
language_invalid_str_mv	Inglés
dc.rights.none.fl_str_mv	http://creativecommons.org/licenses/by/4.0/ info:eu-repo/semantics/openAccess
rights_invalid_str_mv	http://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv	openAccess
dc.source.none.fl_str_mv	reponame:RUNA. Repositorio da Consellería de Sanidade e Sergas instname:Servizo Galego de Saúde (SERGAS)
instname_str	Servizo Galego de Saúde (SERGAS)
reponame_str	RUNA. Repositorio da Consellería de Sanidade e Sergas
collection	RUNA. Repositorio da Consellería de Sanidade e Sergas
repository.name.fl_str_mv
repository.mail.fl_str_mv
_version_	1869410575263465472
score	15.811543

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

Similares en LA Referencia