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

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Publicated to:Nature Communications. 14 (1): 6147- - 2023-10-02 14(1), DOI: 10.1038/s41467-023-41819-0

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; Diez-Obrero, Virginia; van Duijnhoven, Franzel J B; Jiang, Shangqing; Shin, Aesun; Wolk, Alicja; Phipps, Amanda I; Burnett-Hartman, Andrea; Gsur, Andrea; Chan, Andrew T; Zauber, Ann G; Wu, Anna H; Lindblom, Annika; Um, Caroline Y; Tangen, Catherine M; Gignoux, Chris; Newton, Christina; Haiman, Christopher A; Qu, Conghui; Bishop, D Timothy; Buchanan, Daniel D; Crosslin, David R; Conti, David V; Kim, Dong-Hyun; Hauser, Elizabeth; White, Emily; Siegel, Erin; Schumacher, Fredrick R; Rennert, Gad; Giles, Graham G; Hampel, Heather; Brenner, Hermann; Oze, Isao; Oh, Jae Hwan; Lee, Jeffrey K; Schneider, Jennifer L; Chang-Claude, Jenny; Kim, Jeongseon; Huyghe, Jeroen R; Zheng, Jiayin; Hampe, Jochen; Greenson, Joel; Hopper, John L; Palmer, Julie R; Visvanathan, Kala; Matsuo, Keitaro; Matsuda, Koichi; Jung, Keum Ji; Le Marchand, Loic; Vodickova, Ludmila; Bujanda, Luis; Gunter, Marc J; Matejcic, Marco; Jenkins, Mark A; Slattery, Martha L; D'Amato, Mauro; Wang, Meilin; Hoffmeister, Michael; Woods, Michael O; Kim, Michelle; Song, Mingyang; Iwasaki, Motoki; Du, Mulong; Udaltsova, Natalia; Sawada, Norie; Vodicka, Pavel; Campbell, Peter T; Newcomb, Polly A; Cai, Qiuyin; Pearlman, Rachel; Pai, Rish K; Schoen, Robert E; Steinfelder, Robert S; Haile, Robert W; Vandenputtelaar, Rosita; Prentice, Ross L; Kuery, Sebastien; Castellvi-Bel, Sergi; Tsugane, Shoichiro; Berndt, Sonja I; Lee, Soo Chin; Brezina, Stefanie; Weinstein, Stephanie J; Chanock, Stephen J; Jee, Sun Ha; Kweon, Sun-Seog; Vadaparampil, Susan; Harrison, Tabitha A; Yamaji, Taiki; Keku, Temitope O; Vymetalkova, Veronika; Arndt, Volker; Jia, Wei-Hua; Shu, Xiao-Ou; Lin, Yi; Ahn, Yoon-Ok; Stadler, Zsofia K; Van Guelpen, Bethany; Ulrich, Cornelia M; Platz, Elizabeth A; Potter, John D; Li, Christopher I; Meester, Reinier; Moreno, Victor; Figueiredo, Jane C; Casey, Graham; Lansdorp Vogelaar, Iris; Dunlop, Malcolm G; Gruber, Stephen B; 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

Affiliations

Aichi Canc Ctr Res Inst, Div Canc Epidemiol & Prevent, Nagoya, Aichi, Japan - Author

Aichi Canc Ctr Res Inst, Div Mol & Clin Epidemiol, Nagoya, Aichi, Japan - Author

Amer Canc Soc, Dept Populat Sci, Atlanta, GA USA - Author

Bellvitge Biomed Res Inst, ONCOBELL Program, Colorectal Canc Grp, Barcelona 08908, Spain - Author

Boston Univ, Sch Med, Slone Epidemiol Ctr, Boston, MA USA - Author

Brigham & Womens Hosp, Channing Div Network Med, Boston, MA USA - Author

Broad Inst Harvard & MIT, Cambridge, MA USA - Author

Broad Institute of Harvard and MIT, Cambridge, MA, USA. - Author

Canc Council Victoria, Canc Epidemiol Div, Melbourne, Vic, Australia - Author

Case Comprehens Canc Ctr, Populat & Canc Prevent Program, Cleveland, OH USA - Author

Case Western Reserve Univ, Dept Populat & Quantitat Hlth Sci, Cleveland, OH USA - Author

Catalan Inst Oncol, Oncol Data Analyt Program, Unit Biomarkers & Susceptibil, Barcelona 08908, Spain - Author

Channing Division of Network Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA. - Author

Charles Univ Prague, Biomed Ctr Pilsen, Plzen, Czech Republic - Author

Charles Univ Prague, Fac Med 1, Inst Biol & Med Genet, Prague, Czech Republic - Author

Charles Univ Prague, Fac Med, Plzen, Czech Republic - Author

Cleveland Clin, Genom Med Inst, Cleveland, OH USA - Author

Clinical and Translational Epidemiology Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA. - Author

Czech Acad Sci, Inst Expt Med, Dept Mol Biol Canc, Prague, Czech Republic - Author

Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden. - Author

Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY, USA. - Author

Department of Epidemiology, Harvard T.H. Chan School of Public Health, Harvard University, Boston, MA, USA. - Author

Department of Epidemiology, University of Washington, Seattle, WA, USA. - Author

Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden. - Author

Department of Population and Public Health Sciences, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA. - Author

Division of Gastroenterology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA. - Author

Division of Human Nutrition and Health, Wageningen University & Research, Wageningen, The Netherlands. - Author

Division of Research, Kaiser Permanente Northern California, Oakland, CA, USA. - Author

Duke Univ, Med Ctr, Duke Mol Physiol Inst, Durham, NC USA - Author

Durham Vet Affairs Hlth Care Syst, VA Cooperat Studies Program Epidemiol Ctr, Durham, NC USA - Author

Fred Hutchinson Canc Ctr, Div Publ Hlth Sci, Seattle, WA 98109 USA - Author

Fred Hutchinson Canc Res Ctr, SWOG Stat Ctr, Seattle, WA USA - Author

Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH, USA. - Author

German Canc Res Ctr, Div Canc Epidemiol, Heidelberg, Germany - Author

German Canc Res Ctr, Div Clin Epidemiol & Aging Res, Heidelberg, Germany - Author

German Canc Res Ctr, Div Prevent Oncol, Heidelberg, Germany - Author

Girona Biomed Res Inst IDIBGI, Digest Dis & Microbiota Grp, Salt 17190, Girona, Spain - Author

H Lee Moffitt Canc Ctr & Res Inst, Canc Epidemiol Program, Tampa, FL USA - Author

H Lee Moffitt Canc Ctr & Res Inst, Tampa, FL USA - Author

Hallym Univ, Coll Med, Dept Social & Prevent Med, Chunchon, South Korea - Author

Harvard Med Sch, Boston, MA USA - Author

Harvard Univ, Harvard TH Chan Sch Publ Hlth, Depr Immunol & Infect Dis, Boston, MA USA - Author

Harvard Univ, Harvard TH Chan Sch Publ Hlth, Dept Epidemiol, Boston, MA USA - Author

Inst Canc Reseach, Div Genet & Epidemiol, London SW7 3RP, England - Author

Inst Invest Sanitaria de Santiago IDIS, Choupana Sn, Santiago De Compostela 15706, Spain - Author

Institute for Health Research, Kaiser Permanente Colorado, Denver, CO, USA. - Author

Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden. - Author

Johns Hopkins Bloomberg Sch Publ Hlth, Dept Epidemiol, Baltimore, MD USA - Author

Kaiser Permanente Colorado, Inst Hlth Res, Denver, CO USA - Author

Kaiser Permanente Northern Calif, Div Res, Oakland, CA USA - Author

Kaiser Permanente San Francisco Med Ctr, Dept Gastroenterol, San Francisco, CA USA - Author

Kaiser Permanente Washington Hlth Res Inst, Biostat Div, Seattle, WA USA - Author

Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden - Author

Karolinska Inst, Inst Environm Med, Stockholm, Sweden - Author

Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden - Author

Lady Davis Carmel Med Ctr, Dept Commun Med & Epidemiol, Haifa, Israel - Author

Leeds Institute of Cancer and Pathology, University of Leeds, Leeds, UK. - Author

Massachusetts Gen Hosp, Clin & Translat Epidemiol Unit, Boston, MA USA - Author

Massachusetts Gen Hosp, Div Gastroenterol, Boston, MA USA - Author

Med Univ Vienna, Ctr Canc Res, Vienna, Austria - Author

Mem Sloan Kettering Canc Ctr, Dept Epidemiol & Biostat, New York, NY USA - Author

Natl Canc Ctr, Grad Sch Canc Sci & Policy, Dept Canc Biomed Sci, Goyang Si, Gyeonggi Do, South Korea - Author

Natl Canc Ctr, Res Inst & Hosp, Goyang, South Korea - Author

Natl Ctr Tumor Dis NCT, Heidelberg, Germany - Author

Ohio State Univ, Ctr Comprehens Canc, Dept Internal Med, Div Human Genet, Columbus, OH USA - Author

Royal Melbourne Hosp, Genom Med & Family Canc Clin, Parkville, Vic 3000, Australia - Author

Seoul Natl Univ, Coll Med, Canc Res Inst, Dept Prevent Med, Seoul, South Korea - Author

Seoul Natl Univ, Inst Hlth & Environm, Seoul, South Korea - Author

Seoul Natl Univ, Sch Publ Hlth, Dept Epidemiol, Seoul, South Korea - Author

Tech Univ Dresden TU Dresden, Univ Hosp Dresden, Dept Med 1, Dresden, Germany - Author

Technion Israel Inst Technol, Ruth & Bruce Rappaport Fac Med, Haifa, Israel - Author

Univ Basque Country, Ctr Invest Biomed Red Enfermedades Hepat & Digest, Biodonostia Hlth Res Inst, Dept Gastroenterol,UPV EHU, San Sebastian, Spain - Author

Univ Colorado Anschutz Med Campus, Colorado Ctr Personalized Med, Aurora, CO USA - Author

Univ Edinburgh, Inst Genet & Canc, Med Res Council Human Genet Unit, Colon Canc Genet Grp, Edinburgh EH4 2XU, Midlothian, Scotland - Author

Univ Edinburgh, Inst Genom & Canc, Edinburgh Canc Res Ctr, Crewe Rd, Edinburgh EH4 2XU, Midlothian, Scotland - Author

Univ Hawaii, Ctr Canc, Honolulu, HI USA - Author

Univ Leeds, Leeds Inst Canc & Pathol, Leeds, W Yorkshire, England - Author

Univ Med Ctr Hamburg Eppendorf, Univ Canc Ctr Hamburg UCCH, Hamburg, Germany - Author

Univ Melbourne, Dept Clin Pathol, Colorectal Oncogen Grp, Parkville, Vic 3000, Australia - Author

Univ Melbourne, Melbourne Sch Populat & Global Hlth, Ctr Epidemiol & Biostat, Melbourne, Vic, Australia - Author

Univ Melbourne, Victorian Comprehens Canc Ctr, Ctr Canc Res, Parkville, Vic 3000, Australia - Author

Univ Michigan, Dept Pathol, Ann Arbor, MI 48104 USA - Author

Univ Southern Calif, Keck Sch Med, Dept Populat & Publ Hlth Sci, Los Angeles, CA USA - Author

Univ Southern Calif, Preventat Med, Los Angeles, CA USA - Author

Univ Southern Denmark, Dept Publ Hlth, Danish Inst Adv Study DIAS Epidemiol Biostat & Bi, Odense, Denmark - Author

Univ Tokyo, Grad Sch Frontier Sci, Dept Computat Biol & Med Sci, Lab Clin Genome Sequencing, Tokyo, Japan - Author

Univ Utah, Dept Internal Med, Salt Lake City, UT USA - Author

Univ Virginia, Dept Family Med, Charlottesville, VA USA - Author

Univ Washington, Dept Epidemiol, Seattle, WA 98195 USA - Author

Univ Washington, Med Ctr, Dept Bioinformat & Med Educ, Seattle, WA 98195 USA - Author

Univ Washington, Med Ctr, Dept Med Med Genet, Seattle, WA USA - Author

Univ Washington, Sch Publ Hlth, Dept Epidemiol, Seattle, WA USA - Author

Vanderbilt Univ, Med Ctr, Vanderbilt Epidemiol Ctr, Div Epidemiol,Dept Med, Nashville, TN USA - Author

Wageningen Univ & Res, Div Human Nutr & Hlth, Wageningen, Netherlands - Author

World Hlth Org, Int Agcy Res Canc, Nutr & Metab Branch, Lyon, France - Author

Yonsei Univ, Grad Sch Publ Hlth, Inst Hlth Promot, Seoul, South Korea - Author

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. © 2023, Springer Nature Limited.

Keywords

AdultAfrican americanAgeAgedAnalytic methodAncestryAncestry groupArea under the curveArticleAsianBlack personCancerCancer incidenceCancer registryCarcinogenesisCaucasianClinical practiceCohort analysisColorectal cancerColorectal neoplasmsControlled studyCumulative incidenceDecision curve analysisEquityEthnic groupEthnicityEuropeanFalse positive resultFemaleGene locusGenetic predisposition to diseaseGenetic risk scoreGenomeGenome-wide association studyHealth riskHispanicHumanHumansMajor clinical studyMaleMiddle agedMultifactorial inheritancePolymorphism, single nucleotidePopulation researchPredictionQuestionnaireReceiver operating characteristicRisk assessmentRisk factorRisk factorsSexSingle nucleotide polymorphismUnited statesValidation study

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Bibliometric impact. Analysis of the contribution and dissemination channel

The work has been published in the journal Nature Communications due to its progression and the good impact it has achieved in recent years, according to the agency WoS (JCR), it has become a reference in its field. In the year of publication of the work, 2023, it was in position 8/134, thus managing to position itself as a Q1 (Primer Cuartil), in the category Multidisciplinary Sciences. Notably, the journal is positioned above the 90th percentile.

From a relative perspective, and based on the normalized impact indicator calculated from the Field Citation Ratio (FCR) of the Dimensions source, it yields a value of: 7.52, which indicates that, compared to works in the same discipline and in the same year of publication, it ranks as a work cited above average. (source consulted: Dimensions May 2025)

Specifically, and according to different indexing agencies, this work has accumulated citations as of 2025-05-07, the following number of citations:

WoS: 7
Europe PMC: 2
OpenCitations: 5

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This work has been carried out with international collaboration, specifically with researchers from: Australia; Austria; Canada; China; Czech Republic; Denmark; France; Germany; Israel; Italy; Japan; Netherlands; Republic of Korea; Singapore; Sweden; United Kingdom; United States of America.

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