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Minor allele of the factor V K858R variant protects from venous thrombosis only in non-carriers of factor V Leiden mutation

dc.rights.licenseopenen_US
dc.contributor.authorIBRAHIM-KOSTA, M.
dc.contributor.authorSUCHON, P.
dc.contributor.authorCOUTURAUD, F.
dc.contributor.authorSMADJA, D.
dc.contributor.authorOLASO, R.
hal.structure.identifierBordeaux population health [BPH]
dc.contributor.authorGERMAIN, M.
dc.contributor.authorSAUT, N.
dc.contributor.authorGOUMIDI, L.
dc.contributor.authorDERBOIS, C.
hal.structure.identifierBordeaux population health [BPH]
dc.contributor.authorTHIBORD, F.
hal.structure.identifierBordeaux population health [BPH]
dc.contributor.authorDEBETTE, Stephanie
dc.contributor.authorAMOUYEL, Philippe
dc.contributor.authorDELEUZE, J. F.
dc.contributor.authorVAN DOORN, P.
dc.contributor.authorCASTOLDI, E.
dc.contributor.authorPATIN, E.
dc.contributor.authorALESSI, M. C.
hal.structure.identifierBordeaux population health [BPH]
dc.contributor.authorTREGOUET, David-Alexandre
dc.contributor.authorMORANGE, P. E.
dc.date.accessioned2020-06-24T07:20:30Z
dc.date.available2020-06-24T07:20:30Z
dc.date.issued2019-03-06
dc.identifier.issn2045-2322en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/8120
dc.description.abstractEnFactor V serves an important role in the regulation of blood coagulation. The rs6025 (R534Q) and rs4524 (K858R) polymorphisms in the F5 gene, are known to influence the risk of venous thrombosis. While the rare Q534 (factor V Leiden) allele is associated with an increased risk of venous thrombosis, the minor R858 allele is associated with a lower risk of disease. However, no study has deeply examined the cumulative impact of these two variations on venous thrombosis risk. We study the association of these polymorphisms with the risk of venous thrombosis in 4 French case-control populations comprising 3719 patients and 4086 controls. We demonstrate that the Q534 allele has a dominant effect over R858. Besides, we show that in individuals not carrying the Q534 allele, the protective effect of the R858 allele acts in a dominant mode. Thrombin generation-based normalized activated protein C sensitivity ratio was lower in the 858R/R homozygotes than in the 858K/K homozygotes (1.92 +/- 1.61 vs 2.81 +/- 1.57, p = 0.025). We demonstrate that the R858 allele of the F5 rs4524 variant protects from venous thrombosis only in non-carriers of the Q534 allele of the F5 rs6025. Its protective effect is mediated by reduced factor VIII levels and reduced activated protein C resistance.
dc.language.isoENen_US
dc.rightsAttribution 3.0 United States*
dc.rights.urihttp://creativecommons.org/licenses/by/3.0/us/*
dc.subject.enUSMR
dc.subject.enVINTAGE
dc.title.enMinor allele of the factor V K858R variant protects from venous thrombosis only in non-carriers of factor V Leiden mutation
dc.title.alternativeSci Repen_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1038/s41598-019-40172-xen_US
dc.subject.halSciences du Vivant [q-bio]/Santé publique et épidémiologieen_US
dc.identifier.pubmed30842582en_US
bordeaux.journalScientific Reportsen_US
bordeaux.page3750en_US
bordeaux.volume9en_US
bordeaux.hal.laboratoriesBordeaux Population Health Research Center (BPH) - U1219en_US
bordeaux.issue1en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
hal.exportfalse
bordeaux.COinSctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Scientific%20Reports&rft.date=2019-03-06&rft.volume=9&rft.issue=1&rft.spage=3750&rft.epage=3750&rft.eissn=2045-2322&rft.issn=2045-2322&rft.au=IBRAHIM-KOSTA,%20M.&SUCHON,%20P.&COUTURAUD,%20F.&SMADJA,%20D.&OLASO,%20R.&rft.genre=article


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