Please use this identifier to cite or link to this item:
Type: Artigo de periódico
Title: MTHFR Polymorphic Variant C677T Is Associated to Vascular Complications in Sickle-Cell Disease
Author: Hatzlhofer, BLD
Bezerra, MAC
Santos, MNN
Albuquerque, DM
Freitas, EM
Costa, FF
Araujo, AS
Muniz, MTC
Abstract: Vaso-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.
Country: EUA
Editor: Mary Ann Liebert Inc
Rights: aberto
Identifier DOI: 10.1089/gtmb.2011.0361
Date Issue: 2012
Appears in Collections:Unicamp - Artigos e Outros Documentos

Files in This Item:
File Description SizeFormat 
WOS000308749500009.pdf184.01 kBAdobe PDFView/Open

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.