Identification of polymorphisms in the 5 '-untranslated region of the TAFI gene: relationship with plasma TAFI levels and risk of venous thrombosis

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dc.contributor.authorFranco, R. F.
dc.contributor.authorFagundes, M. G.
dc.contributor.authorMeijers, JCM
dc.contributor.authorReitsma, P. H.
dc.contributor.authorLourenco, D.
dc.contributor.authorMorelli, V
dc.contributor.authorMaffei, Francisco Humberto de Abreu [UNESP]
dc.contributor.authorFerrari, I. C.
dc.contributor.authorPiccinato, C. E.
dc.contributor.authorSilva, W. A.
dc.contributor.authorZago, M. A.
dc.contributor.institutionUniversidade de São Paulo (USP)
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.contributor.institutionUniversidade Estadual Paulista (Unesp)
dc.contributor.institutionUniv Amsterdam
dc.date.accessioned2014-05-20T15:30:06Z
dc.date.available2014-05-20T15:30:06Z
dc.date.issued2001-05-01
dc.description.abstractBackground and Objectives. Thrombin activatable fibrinolysis inhibitor (TAFI) plays an important role in hemostasis, functioning as a potent fibrinolysis inhibitor. TAFI gene variations may contribute to plasma TAFI levels and thrombotic risk.Design and Methods. We sequenced a 2083-bp region of the 5 ' -regulatory region of the TAFI gene in 127 healthy subjects searching for variations, and correlated identified polymorphisms with plasma TAFI levels. TAFI polymorphisms were examined as risk factors for venous thrombosis by determining their prevalence in 388 patients with deep venous thrombosis (DVT) and in 388 controls.Results. Seven novel polymorphisms were identified: -152 A/G, -438 A/G, -530 C/T, -1053 T/C, -1102 T/G, -1690 G/A, and -1925 T/C. -152 A/G, -530 C/T and -1925 T/C were found to be in strong linkage disequilibrium, as were the -438 A/G, -1053 T/C, -1102 T/G and -1690 G/A, Plasma TAFI levels were higher in -43866/-1053CC/-1102GG/-1690AA homozygotes than In -438AG/-1053TC/-1102TG/-1690GA heterozygotes, and -438AA/-1053TT/-1102TT/-1690GG homozygotes had the lowest TAFI levels (p=0.0003). TAFI concentrations in -152AA/-530CC/-1925TT homozygotes were somewhat higher but not significantly different from levels observed for -152AG/-530CT/-1925TC heterozygotes, Taken in combination, -438AG/-1053TC/-1102TG/-1690GA and -438AA/-1053TT/-1102TT/-1690GG yielded an OR for DVT of 0.8 (95%CI: 0.6-1). in subjects aged < 35 years the OR was 0.7 (95%CI: 0.5-1.1), the OR for -152AG/-530CT/-1925TC was 1 (95%CI: 0.5-2.2) in the whole group of patients and controls, whereas in subjects aged <35 years the OR was 0.1 (95%CI: 0.02-0.9).Interpretation and Conclusions. Polymorphisms in the TAFI promoter determine plasma antigen levels and may influence the risk of venous thrombophilia. <(c)>2001, Ferrata Storti Foundation.en
dc.description.affiliationUniv São Paulo, Sch Med Ribeirao Preto, Dept Clin Med, Hematol Lab,Ctr Cell Based Therapy, BR-14048900 Ribeirao Preto, SP, Brazil
dc.description.affiliationUniv Fed São Paulo, UNIFESP, BR-04023062 São Paulo, Brazil
dc.description.affiliationState Univ São Paulo, UNESP, São Paulo, Brazil
dc.description.affiliationUniv Amsterdam, Acad Med Ctr, Dept Vasc Med, NL-1105 AZ Amsterdam, Netherlands
dc.description.affiliationUniv Amsterdam, Acad Med Ctr, Dept Expt Internal Med, NL-1105 AZ Amsterdam, Netherlands
dc.description.affiliationUnespState Univ São Paulo, UNESP, São Paulo, Brazil
dc.format.extent510-517
dc.identifier.citationHaematologica. Pavia: Ferrata Storti Foundation, v. 86, n. 5, p. 510-517, 2001.
dc.identifier.issn0390-6078
dc.identifier.urihttp://hdl.handle.net/11449/39550
dc.identifier.wosWOS:000168808000012
dc.language.isoeng
dc.publisherFerrata Storti Foundation
dc.relation.ispartofHaematologica
dc.relation.ispartofjcr9.090
dc.relation.ispartofsjr3,063
dc.rights.accessRightsAcesso restrito
dc.sourceWeb of Science
dc.subjectTAFIpt
dc.subjectpromoterpt
dc.subjectDNA sequencingpt
dc.subjectthrombosispt
dc.subjectrisk factorpt
dc.titleIdentification of polymorphisms in the 5 '-untranslated region of the TAFI gene: relationship with plasma TAFI levels and risk of venous thrombosisen
dc.typeArtigo
dcterms.licensehttp://www.haematologica.org/site/misc/authors.xhtml
dcterms.rightsHolderFerrata Storti Foundation
unesp.author.orcid0000-0001-9364-2886[10]
unesp.campusUniversidade Estadual Paulista (Unesp), Faculdade de Medicina, Botucatupt

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