MTHFR Polymorphic Variant C677T Is Associated to Vascular Complications in Sickle-Cell Disease

dc.creatorHatzlhofer, BLD
dc.creatorBezerra, MAC
dc.creatorSantos, MNN
dc.creatorAlbuquerque, DM
dc.creatorFreitas, EM
dc.creatorCosta, FF
dc.creatorAraujo, AS
dc.creatorMuniz, MTC
dc.date2012
dc.dateSEP
dc.date2014-08-01T18:41:09Z
dc.date2015-11-26T17:57:39Z
dc.date2014-08-01T18:41:09Z
dc.date2015-11-26T17:57:39Z
dc.date.accessioned2018-03-29T00:41:12Z
dc.date.available2018-03-29T00:41:12Z
dc.identifierGenetic Testing And Molecular Biomarkers. Mary Ann Liebert Inc, v. 16, n. 9, n. 1038, n. 1043, 2012.
dc.identifier1945-0265
dc.identifierWOS:000308749500009
dc.identifier10.1089/gtmb.2011.0361
dc.identifierhttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/82119
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/82119
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1291539
dc.descriptionConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
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 chi(2) 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.
dc.description16
dc.description9
dc.description1038
dc.description1043
dc.descriptionScience and Technology Support Foundation of the State of Pernambuco (Fundacao de Amparo a Ciencia e Tecnologia do Estado de Pernambuco
dc.descriptionFACEPE)
dc.descriptionConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.descriptionConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.languageen
dc.publisherMary Ann Liebert Inc
dc.publisherNew Rochelle
dc.publisherEUA
dc.relationGenetic Testing And Molecular Biomarkers
dc.relationGenet. Test. Mol. Biomark.
dc.rightsaberto
dc.sourceWeb of Science
dc.subjectFactor-v-leiden
dc.subjectMethylenetetrahydrofolate Reductase
dc.subjectRisk-factor
dc.subject5,10-methylenetetrahydrofolate Reductase
dc.subjectVenous Thrombosis
dc.subjectProthrombin Gene
dc.subjectMutation
dc.subjectHomocysteine
dc.subjectAnemia
dc.subjectDna
dc.titleMTHFR Polymorphic Variant C677T Is Associated to Vascular Complications in Sickle-Cell Disease
dc.typeArtículos de revistas


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