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dc.rights.licenseopenen_US
dc.contributor.authorMUNSCH, Gaëlle
dc.contributor.authorPROUST, Carole
hal.structure.identifierBiologie des maladies cardiovasculaires = Biology of Cardiovascular Diseases
dc.contributor.authorLABROUCHE-COLOMER, Sylvie
dc.contributor.authorAÏSSI, Dylan
dc.contributor.authorBOLAND, Anne
dc.contributor.authorMORANGE, Pierre-Emmanuel
dc.contributor.authorROCHE, Anne
dc.contributor.authorDE CHAISEMARTIN, Luc
dc.contributor.authorHARROCHE, Annie
dc.contributor.authorOLASO, Robert
dc.contributor.authorDELEUZE, Jean-François
hal.structure.identifierBiologie des maladies cardiovasculaires = Biology of Cardiovascular Diseases
dc.contributor.authorJAMES, Chloe
dc.contributor.authorEMMERICH, Joseph
dc.contributor.authorSMADJA, David M
hal.structure.identifierBordeaux population health [BPH]
dc.contributor.authorJACQMIN-GADDA, Helene
hal.structure.identifierBordeaux population health [BPH]
dc.contributor.authorTREGOUET, David-Alexandre
dc.date.accessioned2023-09-27T13:59:41Z
dc.date.available2023-09-27T13:59:41Z
dc.date.issued2023-06-28
dc.identifier.issn2631-9268en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/183815
dc.description.abstractEnOver the last years, there has been a considerable expansion of genome-wide association studies (GWAS) for discovering biological pathways underlying pathological conditions or disease biomarkers. These GWAS are often limited to binary or quantitative traits analyzed through linear or logistic models, respectively. In some situations, the distribution of the outcome may require more complex modeling, such as when the outcome exhibits a semicontinuous distribution characterized by an excess of zero values followed by a non-negative and right-skewed distribution. We here investigate three different modeling for semicontinuous data: Tobit, Negative Binomial and Compound Poisson-Gamma. Using both simulated data and a real GWAS on Neutrophil Extracellular Traps (NETs), an emerging biomarker in immuno-thrombosis, we demonstrate that Compound Poisson-Gamma was the most robust model with respect to low allele frequencies and outliers. This model further identified the MIR155HG locus as significantly ( = 1.4 × 10) associated with NETs plasma levels in a sample of 657 participants, a locus recently highlighted to be involved in NETs formation in mice. This work highlights the importance of the modeling strategy for GWAS of a semicontinuous outcome and suggests Compound Poisson-Gamma as an elegant but neglected alternative to Negative Binomial for modeling semicontinuous outcome in the context of genomic investigations.
dc.description.sponsorshipUniversity of Bordeaux Graduate School in Digital Public Healthen_US
dc.description.sponsorshipStopping cognitive decline and dementia by fighting covert cerebral small vessel diseaseen_US
dc.description.sponsorshipMedical Genomics - ANR-10-LABX-0013en_US
dc.language.isoENen_US
dc.rightsAttribution-NonCommercial 3.0 United States*
dc.rights.urihttp://creativecommons.org/licenses/by-nc/3.0/us/*
dc.title.enGenome-wide association study of a semicontinuous trait: illustration of the impact of the modeling strategy through the study of Neutrophil Extracellular Traps levels.
dc.title.alternativeNAR Genom Bioinformen_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1093/nargab/lqad062en_US
dc.subject.halSciences du Vivant [q-bio]/Santé publique et épidémiologieen_US
dc.identifier.pubmed37388819en_US
bordeaux.journalNAR Genomics and Bioinformaticsen_US
bordeaux.pagelqad062en_US
bordeaux.volume5en_US
bordeaux.hal.laboratoriesBordeaux Population Health Research Center (BPH) - UMR 1219en_US
bordeaux.issue2en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.teamELEANORen_US
bordeaux.teamBIOSTATen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
bordeaux.identifier.funderIDFondation pour la Recherche Médicaleen_US
bordeaux.identifier.funderIDFondation de Franceen_US
bordeaux.identifier.funderIDFondation Leducqen_US
bordeaux.import.sourcepubmed
hal.identifierhal-04220090
hal.version1
hal.date.transferred2023-10-03T12:12:54Z
hal.popularnonen_US
hal.audienceInternationaleen_US
hal.exporttrue
workflow.import.sourcepubmed
dc.rights.ccPas de Licence CCen_US
bordeaux.COinSctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=NAR%20Genomics%20and%20Bioinformatics&rft.date=2023-06-28&rft.volume=5&rft.issue=2&rft.spage=lqad062&rft.epage=lqad062&rft.eissn=2631-9268&rft.issn=2631-9268&rft.au=MUNSCH,%20Ga%C3%ABlle&PROUST,%20Carole&LABROUCHE-COLOMER,%20Sylvie&A%C3%8FSSI,%20Dylan&BOLAND,%20Anne&rft.genre=article


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