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The PRSS3P2 and TRY7 deletion copy number variant modifies risk for chronic pancreatitis

dc.rights.licenseopenen_US
dc.contributor.authorMASSON, Emmanuelle
dc.contributor.authorEWERS, Maren
dc.contributor.authorPALIWAL, Sumit
dc.contributor.authorKUME, Kiyoshi
dc.contributor.authorSCOTET, Virginie
dc.contributor.authorCOOPER, David N.
dc.contributor.authorREBOURS, Vinciane
dc.contributor.authorBUSCAIL, Louis
dc.contributor.authorROUAULT, Karen
dc.contributor.authorABRANTES, Amandine
dc.contributor.authorAGUILERA MUNOZ, Lina
dc.contributor.authorALBOUYS, Jeremie
dc.contributor.authorALRIC, Laurent
dc.contributor.authorAMIOT, Xavier
dc.contributor.authorARCHAMBEAUD, Isabelle
dc.contributor.authorAUDIAU, Solene
dc.contributor.authorBASTIDE, Laetitia
dc.contributor.authorBAUDON, Julien
dc.contributor.authorBELLAICHE, Guy
dc.contributor.authorBELLON, Serge
dc.contributor.authorBERTRAND, Valerie
dc.contributor.authorBIDEAU, Karine
dc.contributor.authorBILLIEMAZ, Kareen
dc.contributor.authorBILLIOUD, Claire
dc.contributor.authorBONNEFOY, Sabine
dc.contributor.authorBORDERON, Corinne
dc.contributor.authorBOURNET, Barbara
dc.contributor.authorBRETON, Estelle
dc.contributor.authorBRUGEL, Mathias
dc.contributor.authorCADIOT, Guillaume
dc.contributor.authorCAMUS, Marine
dc.contributor.authorCARPENTIER-POURQUIER, Marine
dc.contributor.authorCHAMOUARD, Patrick
dc.contributor.authorCHAPUT, Ulriikka
dc.contributor.authorCHEN, Jian-Min
dc.contributor.authorCHOLET, Franck
dc.contributor.authorCIOCAN, Dragos Marius
dc.contributor.authorCLAVEL, Christine
dc.contributor.authorCOFFIN, Benoit
dc.contributor.authorCOIMET-BERGER, Laura
dc.contributor.authorCOSCONEA, Simona
dc.contributor.authorCREVEAUX, Isabelle
dc.contributor.authorCULETTO, Adrian
dc.contributor.authorDABOUSSI, Oussama
dc.contributor.authorDE MESTIER, Louis
dc.contributor.authorDEGAND, Thibault
dc.contributor.authorD'ENGREMONT, Christelle
dc.contributor.authorDENIS, Bernard
dc.contributor.authorDERMINE, Solene
dc.contributor.authorDESGRIPPES
dc.contributor.authorDROUET D'AUBIGNY, Augustin
dc.contributor.authorENAUD, Raphael
dc.contributor.authorFABRE, Alexandre
dc.contributor.authorFEREC, Claude
dc.contributor.authorGARGOT, Dany
dc.contributor.authorGELSI, Eve
dc.contributor.authorGENTILCORE, Elena
dc.contributor.authorGINCUL, Rodica
dc.contributor.authorGINGLINGER-FAVRE, Emmanuelle
dc.contributor.authorGIOVANNINI, Marc
dc.contributor.authorGOMERCIC, Cecile
dc.contributor.authorGONDRAN, Hannah
dc.contributor.authorGRAINVILLE, Thomas
dc.contributor.authorGRANDVAL, Philippe
dc.contributor.authorGRASSET, Denis
dc.contributor.authorGRIMALDI, Stephane
dc.contributor.authorGRIMBERT, Sylvie
dc.contributor.authorHAGEGE, Herve
dc.contributor.authorHEISSAT, Sophie
dc.contributor.authorHENTIC, Olivia
dc.contributor.authorHERBER-MAYNE, Anne
dc.contributor.authorHERVOUET, Marc
dc.contributor.authorHOIBIAN, Solene
dc.contributor.authorJACQUES, Jeremie
dc.contributor.authorJAIS, Benedicte
dc.contributor.authorKAASSIS, Mehdi
dc.contributor.authorKOCH, Stephane
dc.contributor.authorLACAZE, Elodie
dc.contributor.authorLACROUTE, Joel
hal.structure.identifierBordeaux population health [BPH]
dc.contributor.authorLAMIREAU, Thierry
dc.contributor.authorLAURENT, Lucie
dc.contributor.authorLE GUILLOU, Xavier
dc.contributor.authorLE RHUN, Marc
dc.contributor.authorLEBLANC, Sarah
dc.contributor.authorLEVY, Philippe
dc.contributor.authorLIEVRE, Astrid
dc.contributor.authorLORENZO, Diane
dc.contributor.authorMAIRE, Frederique
dc.contributor.authorMARCEL, Kevin
dc.contributor.authorMAUILLON, Jacques
dc.contributor.authorMORGANT, Stephanie
dc.contributor.authorMOUSSATA, Driffa
dc.contributor.authorMULLER, Nelly
dc.contributor.authorNAMBOT, Sophie
dc.contributor.authorNAPOLEON, Bertrand
dc.contributor.authorOLIVIER, Anne
dc.contributor.authorPAGENAULT, Mael
dc.contributor.authorPELLETIER, Anne-Laure
dc.contributor.authorPENNEC, Olivier
dc.contributor.authorPINARD, Fabien
dc.contributor.authorPIOCHE, Mathieu
dc.contributor.authorPROST, Benedicte
dc.contributor.authorQUENEHERVE, Lucille
dc.contributor.authorREBOUX, Noemi
dc.contributor.authorREKIK, Samia
dc.contributor.authorRIACHI, Ghassan
dc.contributor.authorROHMER, Barbara
dc.contributor.authorROQUELAURE, Bertrand
dc.contributor.authorROSA HEZODE, Isabelle
dc.contributor.authorROSTAIN, Florian
dc.contributor.authorSAURIN, Jean-Christophe
dc.contributor.authorSERVAIS, Laure
dc.contributor.authorSTAN-IUGA, Roxana
dc.contributor.authorSUBTIL, Clement
dc.contributor.authorTANNECHE, Jeremy
dc.contributor.authorTEXIER, Charles
dc.contributor.authorTHOMASSIN, Lucie
dc.contributor.authorTOUGERON, David
dc.contributor.authorVUITTON, Lucine
dc.contributor.authorWALLENHORST, Timothee
dc.contributor.authorWANGERME, Marc
dc.contributor.authorZANALDI, Helene
dc.contributor.authorZERBIB, Frank
dc.contributor.authorBHASKAR, Seema
dc.contributor.authorKIKUTA, Kazuhiro
dc.contributor.authorRAO, G. Venkat
dc.contributor.authorHAMADA, Shin
dc.contributor.authorREDDY, D. Nageshwar
dc.contributor.authorMASAMUNE, Atsushi
dc.contributor.authorCHANDAK, Giriraj Ratan
dc.contributor.authorWITT, Heik
dc.date.accessioned2023-02-17T09:06:27Z
dc.date.available2023-02-17T09:06:27Z
dc.date.issued2023-01
dc.identifier.issn1424-3911 (Electronic) 1424-3903 (Linking)en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/171979
dc.description.abstractEnBACKGROUND: PRSS1 and PRSS2 constitute the only functional copies of a tandemly-arranged five-trypsinogen-gene cluster (i.e., PRSS1, PRSS3P1, PRSS3P2, TRY7 and PRSS2) on chromosome 7q35. Variants in PRSS1 and PRSS2, including missense and copy number variants (CNVs), have been reported to predispose to or protect against chronic pancreatitis (CP). We wondered whether a common trypsinogen pseudogene deletion CNV (that removes two of the three trypsinogen pseudogenes, PRSS3P2 and TRY7) might be associated with CP causation/predisposition. METHODS: We analyzed the common PRSS3P2 and TRY7 deletion CNV in a total of 1536 CP patients and 3506 controls from France, Germany, India and Japan by means of quantitative fluorescent multiplex polymerase chain reaction. RESULTS: We demonstrated that the deletion CNV variant was associated with a protective effect against CP in the French, German and Japanese cohorts whilst a trend toward the same association was noted in the Indian cohort. Meta-analysis under a dominant model yielded a pooled odds ratio (OR) of 0.68 (95% confidence interval (CI) 0.52-0.89; p = 0.005) whereas an allele-based meta-analysis yielded a pooled OR of 0.84 (95% CI 0.77-0.92; p = 0.0001). This protective effect is explicable by reference to the recent finding that the still functional PRSS3P2/TRY7 pseudogene enhancers upregulate pancreatic PRSS2 expression. CONCLUSIONS: The common PRSS3P2 and TRY7 deletion CNV was associated with a reduced risk for CP. This finding provides additional support for the emerging view that dysregulated PRSS2 expression represents a discrete mechanism underlying CP predisposition or protection.
dc.language.isoENen_US
dc.title.enThe PRSS3P2 and TRY7 deletion copy number variant modifies risk for chronic pancreatitis
dc.title.alternativePancreatologyen_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1016/j.pan.2022.11.013en_US
dc.subject.halSciences du Vivant [q-bio]/Santé publique et épidémiologieen_US
dc.identifier.pubmed36517351en_US
bordeaux.journalPancreatologyen_US
bordeaux.page48-56en_US
bordeaux.volume23en_US
bordeaux.hal.laboratoriesBordeaux Population Health Research Center (BPH) - UMR 1219en_US
bordeaux.issue1en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.teamLEHA_BPHen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
bordeaux.identifier.funderIDInstitut National de la Santé et de la Recherche Médicaleen_US
hal.exportfalse
dc.rights.ccPas de Licence CCen_US
bordeaux.COinSctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Pancreatology&rft.date=2023-01&rft.volume=23&rft.issue=1&rft.spage=48-56&rft.epage=48-56&rft.eissn=1424-3911%20(Electronic)%201424-3903%20(Linking)&rft.issn=1424-3911%20(Electronic)%201424-3903%20(Linking)&rft.au=MASSON,%20Emmanuelle&EWERS,%20Maren&PALIWAL,%20Sumit&KUME,%20Kiyoshi&SCOTET,%20Virginie&rft.genre=article


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