Mthfr Polymorphic Variant C677t Is Associated To Vascular Complications In Sickle-cell Disease

dc.creatorHatzlhofer B.L.D.
dc.creatorBezerra M.A.C.
dc.creatorSantos M.N.N.
dc.creatorAlbuquerque D.M.
dc.creatorFreitas E.M.
dc.creatorCosta F.F.
dc.creatorAraujo A.S.
dc.creatorMuniz M.T.C.
dc.date2012
dc.date2015-06-25T20:24:48Z
dc.date2015-11-26T15:20:59Z
dc.date2015-06-25T20:24:48Z
dc.date2015-11-26T15:20:59Z
dc.date.accessioned2018-03-28T22:30:30Z
dc.date.available2018-03-28T22:30:30Z
dc.identifier
dc.identifierGenetic Testing And Molecular Biomarkers. , v. 16, n. 9, p. 1038 - 1043, 2012.
dc.identifier19450265
dc.identifier10.1089/gtmb.2011.0361
dc.identifierhttp://www.scopus.com/inward/record.url?eid=2-s2.0-84866252264&partnerID=40&md5=5e5df2f99bc4e40aa870e4fc10d7b6f8
dc.identifierhttp://www.repositorio.unicamp.br/handle/REPOSIP/90308
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/90308
dc.identifier2-s2.0-84866252264
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1260115
dc.descriptionVaso-occlusion is a determinant for most signs and symptoms of sickle-cell anemia (SCA). The mechanisms involved in the pathogenesis of vascular complications in SCA remain unclear. It is known that genetic polymorphisms associated with thrombophilia may be potential modifiers of clinical features of SCA. The genetic polymorphisms C677T and A1298C relating to the enzyme methylenetetrahydrofolate reductase (MTHFR), a clotting Factor V Leiden mutation (1691G→A substitution of Factor V Leiden), and the mutant prothrombin 20210A allele were analyzed in this study. The aim was to find possible correlations with vascular complications and thrombophilia markers in a group of SCA patients in Pernambuco, Brazil. The study included 277 SCA patients, divided into two groups: one consisting of 177 nonconsanguineous SCA patients who presented vascular manifestations of stroke, avascular necrosis, leg ulcers, priapism, and acute chest syndrome (group 1); and the other consisting of 100 SCA patients without any reported vascular complication (group 2). Molecular tests were done using either polymerase chain reaction (PCR) restriction fragment length polymorphism or allele-specific PCR techniques. Comparisons between the groups were made using the χ2 test. The 677 CT and TT genotypes showed a significant risk of vascular complications (p=0.015). No significant associations between the groups were found when samples were analyzed for the MTHFR A1298C allele (p=0.913), Factor V G1691 (p=0.555), or prothrombin G20210A mutation (p=1.000). The polymorphism MTHFR C677T seemed to be possibly predictive for the development of some vascular complications in SCA patients among this population. © 2012 Mary Ann Liebert, Inc.
dc.description16
dc.description9
dc.description1038
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dc.languageen
dc.publisher
dc.relationGenetic Testing and Molecular Biomarkers
dc.rightsfechado
dc.sourceScopus
dc.titleMthfr Polymorphic Variant C677t Is Associated To Vascular Complications In Sickle-cell Disease
dc.typeArtículos de revistas


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