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Multi-ancestry polygenic risk scores for venous thromboembolism

dc.rights.licenseopenen_US
dc.contributor.authorJEE, Yon Ho
dc.contributor.authorTHIBORD, Florian
dc.contributor.authorDOMINGUEZ, Alicia
dc.contributor.authorSEPT, Corriene
dc.contributor.authorBOULIER, Kristin
dc.contributor.authorVENKATESWARAN, Vidhya
dc.contributor.authorDING, Yi
dc.contributor.authorCHERLIN, Tess
dc.contributor.authorVERMA, Shefali Setia
dc.contributor.authorFARO, Valeria Lo
dc.contributor.authorBARTZ, Traci M
dc.contributor.authorBOLAND, Anne
dc.contributor.authorBRODY, Jennifer A
dc.contributor.authorDELEUZE, Jean-Francois
dc.contributor.authorEMMERICH, Joseph
dc.contributor.authorGERMAIN, Marine
dc.contributor.authorJOHNSON, Andrew D
dc.contributor.authorKOOPERBERG, Charles
dc.contributor.authorMORANGE, Pierre-Emmanuel
dc.contributor.authorPANKRATZ, Nathan
dc.contributor.authorPSATY, Bruce M
dc.contributor.authorREINER, Alexander P
dc.contributor.authorSMADJA, David M
dc.contributor.authorSITLANI, Colleen M
dc.contributor.authorSUCHON, Pierre
dc.contributor.authorTANG, Weihong
hal.structure.identifierBordeaux population health [BPH]
dc.contributor.authorTREGOUET, David-Alexandre
dc.contributor.authorZOLLNER, Sebastian
dc.contributor.authorPASANIUC, Bogdan
dc.contributor.authorDAMRAUER, Scott M
dc.contributor.authorSANNA, Serena
dc.contributor.authorSNIEDER, Harold
dc.contributor.authorKABRHEL, Christopher
dc.contributor.authorSMITH, Nicholas L
dc.contributor.authorKRAFT, Peter
dc.date.accessioned2024-02-21T09:54:44Z
dc.date.available2024-02-21T09:54:44Z
dc.date.created2024-01-10
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/188291
dc.description.abstractEnVenous thromboembolism (VTE) is a significant contributor to morbidity and mortality, with large disparities in incidence rates between Black and White Americans. Polygenic risk scores (PRSs) limited to variants discovered in genome-wide association studies in European-ancestry samples can identify European-ancestry individuals at high risk of VTE. However, there is limited evidence on whether high-dimensional PRS constructed using more sophisticated methods and more diverse training data can enhance the predictive ability and their utility across diverse populations. We developed PRSs for VTE using summary statistics from the International Network against Venous Thrombosis (INVENT) consortium GWAS meta-analyses of European- (71,771 cases and 1,059,740 controls) and African-ancestry samples (7,482 cases and 129,975 controls). We used LDpred2 and PRSCSx to construct ancestry-specific and multi-ancestry PRSs and evaluated their performance in an independent European- (6,261 cases and 88,238 controls) and African-ancestry sample (1,385 cases and 12,569 controls). Multi-ancestry PRSs with weights tuned in European- and African-ancestry samples, respectively, outperformed ancestry-specific PRSs in European- (PRSCSX(EUR): AUC=0.61 (0.60, 0.61), PRSCSX_combined(EUR): AUC=0.61 (0.60, 0.62)) and African-ancestry test samples (PRSCSX(AFR): AUC=0.58 (0.57, 0.6), PRSCSX_combined (AFR): AUC=0.59 (0.57, 0.60)). The highest fifth percentile of the best-performing PRS was associated with 1.9-fold and 1.68-fold increased risk for VTE among European- and African-ancestry subjects, respectively, relative to those in the middle stratum. These findings suggest that the multi-ancestry PRS may be used to identify individuals at highest risk for VTE and provide guidance for the most effective treatment strategy across diverse populations.
dc.language.isoENen_US
dc.rightsAttribution-NonCommercial-NoDerivs 3.0 United States*
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/3.0/us/*
dc.title.enMulti-ancestry polygenic risk scores for venous thromboembolism
dc.typeDocument de travail - Pré-publicationen_US
dc.identifier.doi10.1101/2024.01.09.24300914en_US
dc.subject.halSciences du Vivant [q-bio]/Santé publique et épidémiologieen_US
dc.identifier.pubmed38260294en_US
bordeaux.journalmedRxiv : the preprint server for health sciencesen_US
bordeaux.hal.laboratoriesBordeaux Population Health Research Center (BPH) - UMR 1219en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.teamELEANOR_BPHen_US
hal.identifierhal-04470366
hal.version1
hal.date.transferred2024-02-21T09:54:48Z
hal.popularnonen_US
hal.audienceInternationaleen_US
hal.exporttrue
dc.rights.ccPas de Licence CCen_US
bordeaux.subtypePrepublication/Preprinten_US
bordeaux.COinSctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=medRxiv%20:%20the%20preprint%20server%20for%20health%20sciences&rft.au=JEE,%20Yon%20Ho&THIBORD,%20Florian&DOMINGUEZ,%20Alicia&SEPT,%20Corriene&BOULIER,%20Kristin&rft.genre=preprint


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