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Whole-genome analysis of plasma fibrinogen reveals population-differentiated genetic regulators with putative liver roles

dc.rights.licenseopenen_US
dc.contributor.authorHUFFMAN, Jennifer E
dc.contributor.authorNICHOLAS, Jayna
dc.contributor.authorHAHN, Julie
dc.contributor.authorHEATH, Adam S
dc.contributor.authorRAFFIELD, Laura M
dc.contributor.authorYANEK, Lisa R
dc.contributor.authorBRODY, Jennifer A
dc.contributor.authorTHIBORD, Florian
dc.contributor.authorALMASY, Laura
dc.contributor.authorBARTZ, Traci M
dc.contributor.authorBIELAK, Lawrence F
dc.contributor.authorBOWLER, Russell P
dc.contributor.authorCARRASQUILLA, German D
dc.contributor.authorCHASMAN, Daniel I
dc.contributor.authorCHEN, Ming-Huei
dc.contributor.authorEMMERT, David B
dc.contributor.authorGHANBARI, Mohsen
dc.contributor.authorHAESSLER, Jeffrey
dc.contributor.authorHOTTENGA, Jouke J
dc.contributor.authorKLEBER, Marcus E
dc.contributor.authorLE, Ngoc-Quynh
dc.contributor.authorLEE, Jiwon
dc.contributor.authorLEWIS, Joshua P
dc.contributor.authorLI-GAO, Ruifang
dc.contributor.authorLUAN, Jian'an
dc.contributor.authorMALMBERG, Anni Liisi
dc.contributor.authorMANGINO, Massimo
dc.contributor.authorMARIONI, Riccardo
dc.contributor.authorMARTINEZ-PEREZ, Angel
dc.contributor.authorPANKRATZ, Nathan
dc.contributor.authorPOLASEK, Ozren
dc.contributor.authorRICHMOND, Anne
dc.contributor.authorRODRIGUEZ, Benjamin A T
dc.contributor.authorROTTER, Jerome I
dc.contributor.authorSTERI, Maristella
dc.contributor.authorSUCHON, Pierre
dc.contributor.authorTROMPET, Stella
dc.contributor.authorWEISS, Stefan
dc.contributor.authorZARE, Marjan
dc.contributor.authorAUER, Paul L
dc.contributor.authorCHO, Michael
dc.contributor.authorCHRISTOFIDOU, Paraskevi
dc.contributor.authorDAVIES, Gail
dc.contributor.authorDE GEUS, Eco Jc
dc.contributor.authorDELEUZE, Jean-Francois
dc.contributor.authorDELGADO, Graciela E
dc.contributor.authorEKUNWE, Lynette
dc.contributor.authorFARADAY, Nauder
dc.contributor.authorGOGELE, Martin
dc.contributor.authorGREINACHER, Andreas
dc.contributor.authorGAO, He
dc.contributor.authorHOWARD, Tom E
dc.contributor.authorJOSHI, Peter K
dc.contributor.authorKILPELAINEN, Tuomas O
dc.contributor.authorLAHTI, Jari
dc.contributor.authorLINNEBERG, Allan
dc.contributor.authorNAITZA, Silvia
dc.contributor.authorNOORDAM, Raymond
dc.contributor.authorVERGES, Ferran Pauls
dc.contributor.authorRICH, Stephen S
dc.contributor.authorROSENDAAL, Frits R
dc.contributor.authorRUDAN, Igor
dc.contributor.authorRYAN, Kathleen A
dc.contributor.authorSOUTO, Juan Carlos Carlos
dc.contributor.authorVAN ROOIJ, Frank J A
dc.contributor.authorWANG, Heming
dc.contributor.authorZHAO, Wei
dc.contributor.authorBECKER, Lewis
dc.contributor.authorBESWICK, Andrew
dc.contributor.authorBROWN, Michael R
dc.contributor.authorCADE, Brian
dc.contributor.authorCAMPBELL, Harry
dc.contributor.authorCHO, Kelly
dc.contributor.authorCRAPO, James
dc.contributor.authorCURRAN, Joanne
dc.contributor.authorDE MAAT, Moniek P M
dc.contributor.authorDOYLE, Margaret F
dc.contributor.authorELLIOTT, Paul
dc.contributor.authorFLOYD, James S
dc.contributor.authorFUCHSBERGER, Christian
dc.contributor.authorGRARUP, Niels
dc.contributor.authorGUO, Xiuqing
dc.contributor.authorHARRIS, Sarah
dc.contributor.authorHOU, Lifang
dc.contributor.authorKOLCIC, Ivana
dc.contributor.authorKOOPERBERG, Charles
dc.contributor.authorMENNI, Cristina
dc.contributor.authorNAUCK, Matthias
dc.contributor.authorO'CONNELL, Jeffrey R
dc.contributor.authorORRU, Valeria
dc.contributor.authorPSATY, Bruce M
dc.contributor.authorRAIKKONEN, Katri
dc.contributor.authorSMITH, Jennifer A
dc.contributor.authorSORIA, Jose Manuel
dc.contributor.authorSTOTT, David
dc.contributor.authorVAN HYLCKAMA VLIEG, Astrid
dc.contributor.authorWATKINS, Hugh
dc.contributor.authorWILLEMSEN, Gonneke
dc.contributor.authorWILSON, Peter Wf
dc.contributor.authorBEN-SHLOMO, Yoav
dc.contributor.authorBLANGERO, John
dc.contributor.authorBOOMSMA, Dorret
dc.contributor.authorCOX, Simon R
dc.contributor.authorDEHGHAN, Abbas
dc.contributor.authorERIKSSON, Johan G
dc.contributor.authorFIORILLO, Edoardo
dc.contributor.authorFORNAGE, Myriam
dc.contributor.authorHANSEN, Torben
dc.contributor.authorHAYWARD, Caroline
dc.contributor.authorIKRAM, Mohammad Arfan
dc.contributor.authorJUKEMA, J Wouter
dc.contributor.authorKARDIA, Sharon
dc.contributor.authorLANGE, Leslie
dc.contributor.authorMAERZ, Winfried
dc.contributor.authorMATHIAS, Rasika
dc.contributor.authorMITCHELL, Braxton D
dc.contributor.authorMOOK-KANAMORI, Dennis O
dc.contributor.authorMORANGE, Pierre-Emmanuel
dc.contributor.authorPEDERSEN, Oluf
dc.contributor.authorPRAMSTALLER, Peter P
dc.contributor.authorREDLINE, Susan
dc.contributor.authorREINER, Alex P
dc.contributor.authorRIDKER, Paul M
dc.contributor.authorSILVERMAN, Edwin K
dc.contributor.authorSPECTOR, Tim D
dc.contributor.authorVOLKER, Uwe
dc.contributor.authorWAREHAM, Nick
dc.contributor.authorWILSON, James
dc.contributor.authorYAO, Jie
hal.structure.identifierBordeaux population health [BPH]
dc.contributor.authorTREGOUET, David-Alexandre
dc.contributor.authorJOHNSON, Andrew D
dc.contributor.authorWOLBERG, Alisa S
dc.contributor.authorDE VRIES, Paul S
dc.contributor.authorSABATER-LLEAL, Maria
dc.contributor.authorMORRISON, Alanna
dc.contributor.authorSMITH, Nicholas L
dc.date.accessioned2024-10-17T09:53:38Z
dc.date.available2024-10-17T09:53:38Z
dc.date.issued2024-09-03
dc.identifier.issn1528-0020en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/202557
dc.description.abstractEnGenetic studies have identified numerous regions associated with plasma fibrinogen levels in Europeans, yet missing heritability and limited inclusion of non-Europeans necessitates further studies with improved power and sensitivity. Compared with array-based genotyping, whole genome sequencing (WGS) data provides better coverage of the genome and better representation of non-European variants. To better understand the genetic landscape regulating plasma fibrinogen levels, we meta-analyzed WGS data from the NHLBI's Trans-Omics for Precision Medicine (TOPMed) program (n=32,572), with array-based genotype data from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium (n=131,340) imputed to the TOPMed or Haplotype Reference Consortium panel. We identified 18 loci that have not been identified in prior genetic studies of fibrinogen. Of these, four are driven by common variants of small effect with reported MAF at least 10 percentage points higher in African populations. Three signals (SERPINA1, ZFP36L2, and TLR10) contain predicted deleterious missense variants. Two loci, SOCS3 and HPN, each harbor two conditionally distinct, non-coding variants. The gene region encoding the fibrinogen protein chain subunits (FGG;FGB;FGA), contains 7 distinct signals, including one novel signal driven by rs28577061, a variant common in African ancestry populations but extremely rare in Europeans (MAFAFR=0.180; MAFEUR=0.008). Through phenome-wide association studies in the VA Million Veteran Program, we found associations between fibrinogen polygenic risk scores and thrombotic and inflammatory disease phenotypes, including an association with gout. Our findings demonstrate the utility of WGS to augment genetic discovery in diverse populations and offer new insights for putative mechanisms of fibrinogen regulation.
dc.description.sponsorshipIdEx Bordeauxen_US
dc.language.isoENen_US
dc.title.enWhole-genome analysis of plasma fibrinogen reveals population-differentiated genetic regulators with putative liver roles
dc.title.alternativeBlood
dc.typeArticle de revueen_US
dc.identifier.doi10.1182/blood.2023022596en_US
dc.subject.halSciences du Vivant [q-bio]/Santé publique et épidémiologieen_US
dc.identifier.pubmed39226462en_US
bordeaux.journalBlooden_US
bordeaux.pageblood.2023022596en_US
bordeaux.hal.laboratoriesBordeaux Population Health Research Center (BPH) - UMR 1219en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.teamELEANOR_BPHen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
bordeaux.identifier.funderIDNational Heart, Lung, and Blood Instituteen_US
bordeaux.identifier.funderIDNovo Nordisk UK Research Foundationen_US
bordeaux.identifier.funderIDNational Institutes of Healthen_US
hal.identifierhal-04741193
hal.version1
hal.date.transferred2024-10-17T09:53:51Z
hal.popularnonen_US
hal.audienceInternationaleen_US
hal.exporttrue
dc.rights.ccPas de Licence CCen_US
bordeaux.COinSctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Blood&rft.date=2024-09-03&rft.spage=blood.2023022596&rft.epage=blood.2023022596&rft.eissn=1528-0020&rft.issn=1528-0020&rft.au=HUFFMAN,%20Jennifer%20E&NICHOLAS,%20Jayna&HAHN,%20Julie&HEATH,%20Adam%20S&RAFFIELD,%20Laura%20M&rft.genre=article


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