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

dc.contributor.authorThomas, M.*
dc.contributor.authorSu, Y.-R.*
dc.contributor.authorRosenthal, E.A.*
dc.contributor.authorSakoda, L.C.*
dc.contributor.authorSchmit, S.L.*
dc.contributor.authorTimofeeva, M.N.*
dc.contributor.authorChen, Z.*
dc.contributor.authorFernández Rozadilla, Ceres*
dc.contributor.authorLaw, P.J.*
dc.contributor.authorMurphy, N.*
dc.contributor.authorCarreras-Torres, R.*
dc.contributor.authorDiez-Obrero, V.*
dc.contributor.authorvan Duijnhoven, F.J.B.*
dc.contributor.authorJiang, S.*
dc.contributor.authorShin, A.*
dc.contributor.authorWolk, A.*
dc.contributor.authorPhipps, A.I.*
dc.contributor.authorBurnett-Hartman, A.*
dc.contributor.authorGsur, A.*
dc.contributor.authorChan, A.T.*
dc.contributor.authorZauber, A.G.*
dc.contributor.authorWu, A.H.*
dc.contributor.authorLindblom, A.*
dc.contributor.authorUm, C.Y.*
dc.contributor.authorTangen, C.M.*
dc.contributor.authorGignoux, C.*
dc.contributor.authorNewton, C.*
dc.contributor.authorHaiman, C.A.*
dc.contributor.authorQu, C.*
dc.contributor.authorBishop, D.T.*
dc.contributor.authorBuchanan, D.D.*
dc.contributor.authorCrosslin, D.R.*
dc.contributor.authorConti, D.V.*
dc.contributor.authorKim, D.-H.*
dc.contributor.authorHauser, E.*
dc.contributor.authorWhite, E.*
dc.contributor.authorSiegel, E.*
dc.contributor.authorSchumacher, F.R.*
dc.contributor.authorRennert, G.*
dc.contributor.authorGiles, G.G.*
dc.contributor.authorHampel, H.*
dc.contributor.authorBrenner, H.*
dc.contributor.authorOze, I.*
dc.contributor.authorOh, J.H.*
dc.contributor.authorLee, J.K.*
dc.contributor.authorSchneider, J.L.*
dc.contributor.authorChang-Claude, J.*
dc.contributor.authorKim, J.*
dc.contributor.authorHuyghe, J.R.*
dc.contributor.authorZheng, J.*
dc.contributor.authorHampe, J.*
dc.contributor.authorGreenson, J.*
dc.contributor.authorHopper, J.L.*
dc.contributor.authorPalmer, J.R.*
dc.contributor.authorVisvanathan, K.*
dc.contributor.authorMatsuo, K.*
dc.contributor.authorMatsuda, K.*
dc.contributor.authorJung, K.J.*
dc.contributor.authorLi, L.*
dc.contributor.authorLe Marchand, L.*
dc.contributor.authorVodickova, L.*
dc.contributor.authorBujanda, L.*
dc.contributor.authorGunter, M.J.*
dc.contributor.authorMatejcic, M.*
dc.contributor.authorJenkins, M.A.*
dc.contributor.authorSlattery, M.L.*
dc.contributor.authorD'Amato, M.*
dc.contributor.authorWang, M.*
dc.contributor.authorHoffmeister, M.*
dc.contributor.authorWoods, M.O.*
dc.contributor.authorKim, M.*
dc.contributor.authorSong, M.*
dc.contributor.authorIwasaki, M.*
dc.contributor.authorDu, M.*
dc.contributor.authorUdaltsova, N.*
dc.contributor.authorSawada, N.*
dc.contributor.authorVodicka, P.*
dc.contributor.authorCampbell, P.T.*
dc.contributor.authorNewcomb, P.A.*
dc.contributor.authorCai, Q.*
dc.contributor.authorPearlman, R.*
dc.contributor.authorPai, R.K.*
dc.contributor.authorSchoen, R.E.*
dc.contributor.authorSteinfelder, R.S.*
dc.contributor.authorHaile, R.W.*
dc.contributor.authorVandenputtelaar, R.*
dc.contributor.authorPrentice, R.L.*
dc.contributor.authorKüry, S.*
dc.contributor.authorCastellví-Bel, S.*
dc.contributor.authorTsugane, S.*
dc.contributor.authorBerndt, S.I.*
dc.contributor.authorLee, S.C.*
dc.contributor.authorBrezina, S.*
dc.contributor.authorWeinstein, S.J.*
dc.contributor.authorChanock, S.J.*
dc.contributor.authorJee, S.H.*
dc.contributor.authorKweon, S.-S.*
dc.contributor.authorVadaparampil, S.*
dc.contributor.authorHarrison, T.A.*
dc.contributor.authorYamaji, T.*
dc.contributor.authorKeku, T.O.*
dc.contributor.authorVymetalkova, V.*
dc.contributor.authorArndt, V.*
dc.contributor.authorJia, W.-H.*
dc.contributor.authorShu, X.-O.*
dc.contributor.authorLin, Y.*
dc.contributor.authorAhn, Y.-O.*
dc.contributor.authorStadler, Z.K.*
dc.contributor.authorVan Guelpen, B.*
dc.contributor.authorUlrich, C.M.*
dc.contributor.authorPlatz, E.A.*
dc.contributor.authorPotter, J.D.*
dc.contributor.authorLi, C.I.*
dc.contributor.authorMeester, R.*
dc.contributor.authorMoreno, V.*
dc.contributor.authorFigueiredo, J.C.*
dc.contributor.authorCasey, G.*
dc.contributor.authorLansdorp Vogelaar, I.*
dc.contributor.authorDunlop, M.G.*
dc.contributor.authorGruber, S.B.*
dc.contributor.authorHayes, R.B.*
dc.contributor.authorPharoah, P.D.P.*
dc.contributor.authorHoulston, R.S.*
dc.contributor.authorJarvik, G.P.*
dc.contributor.authorTomlinson, I.P.*
dc.contributor.authorZheng, W.*
dc.contributor.authorCorley, D.A.*
dc.contributor.authorPeters, U.*
dc.contributor.authorHsu, L.*
dc.date.accessioned2025-09-08T12:17:36Z
dc.date.available2025-09-08T12:17:36Z
dc.date.issued2023
dc.identifier.citationThomas M, Su Y-R, Rosenthal EA, Sakoda LC, Schmit SL, Timofeeva MN, et al. Combining Asian and European genome-wide association studies of colorectal cancer improves risk prediction across racial and ethnic populations. Nature Communications. 2023;14(1).
dc.identifier.issn2041-1723
dc.identifier.otherhttps://portalcientifico.sergas.gal//documentos/65351b027bba975a1caae51c
dc.identifier.urihttp://hdl.handle.net/20.500.11940/21244
dc.description.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.
dc.description.sponsorshipNational 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)).
dc.languageeng
dc.rightsAttribution 4.0 International (CC BY 4.0)*
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/*
dc.subject.meshHumans *
dc.subject.meshEthnicity *
dc.subject.meshGenome-Wide Association Study *
dc.subject.meshGenetic Predisposition to Disease *
dc.subject.meshPolymorphism, Single Nucleotide*
dc.subject.meshRisk Factors *
dc.subject.meshMultifactorial Inheritance *
dc.subject.meshColorectal Neoplasms *
dc.titleCombining Asian and European genome-wide association studies of colorectal cancer improves risk prediction across racial and ethnic populations
dc.typeArtigo
dc.authorsophosThomas, 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.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.
dc.identifier.doi10.1038/s41467-023-41819-0
dc.identifier.sophos65351b027bba975a1caae51c
dc.issue.number1
dc.journal.titleNature Communications*
dc.organizationFundación Pública Galega de Medicina Xenómica
dc.relation.projectIDNational 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 CA2 [R01 CA244588, U01 CA164930, U01 CA137088, R01 CA059045, R01 CA206279, U01 CA261339, R01 CA185094, U01 HG008657]
dc.relation.projectIDNational Cancer Institute, National Human Genome Research Institute
dc.relation.projectIDGrants-in-Aid for Scientific Research [23K24619] Funding Source: KAKEN
dc.relation.projectIDCancer Research UK [18927] Funding Source: researchfish
dc.relation.projectIDMedical Research Council [MC_PC_U127527198, MC_U127527198, MC_UU_00007/1] Funding Source: researchfish
dc.relation.projectIDMRC [MC_UU_00007/1] Funding Source: UKRI
dc.relation.publisherversionhttps://doi.org/10.1038/s41467-023-41819-0
dc.rights.accessRightsopenAccess*
dc.subject.keywordFPGMX
dc.typefidesArtículo Científico (incluye Original, Original breve, Revisión Sistemática y Meta-análisis)
dc.typesophosArtículo Original
dc.volume.number14


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