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Association of homocysteine and methylene tetrahydrofolate reductase (MTHFR C677T) gene polymorphism with coronary artery disease (CAD) in the population of North India Genet. Mol. Biol.
Tripathi,Rajneesh; Tewari,Satyendra; Singh,Prabhat Kumar; Agarwal,Sarita.
The implications of the methylene tetrahydrofolate reductase (MTHFR) gene and the level of homocysteine in the pathogenesis of coronary artery disease (CAD) have been extensively studied in various ethnic groups. Our aim was to discover the association of MTHFR (C677T) polymorphism and homocysteine level with CAD in north Indian subjects. The study group consisted of 329 angiographically proven CAD patients, and 331 age and sex matched healthy individuals as controls. MTHFR (C677T) gene polymorphism was detected based on the polymerase chain reaction and restriction digestion with HinfI. Total homocysteine plasma concentration was measured using immunoassay. T allele frequency was found to be significantly higher in patients than in the control group. We...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Angiography; CAD; Homocysteine; MTHFR polymorphism.
Ano: 2010 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000200004
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The clinical impact of MTHFR polymorphism on the vascular complications of sickle cell disease BJMBR
Moreira Neto,F.; Lourenço,D.M.; Noguti,M.A.E.; Morelli,V.M.; Gil,I.C.P.; Beltrão,A.C.S.; Figueiredo,M.S..
Sickle cell disease (SCD) is one of the most common inherited diseases in the world and the patients present notorious clinical heterogeneity. It is known that patients with SCD present activation of the blood coagulation and fibrinolytic systems, especially during vaso-occlusive crises, but also during the steady state of the disease. We determined if the presence of the factor V gene G1691A mutation (factor V Leiden), the prothrombin gene G20210A variant, and methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism may be risk factors for vascular complications in individuals with SCD. We studied 53 patients with SCD (60% being women), 29 with SS (sickle cell anemia; 28 years, range: 13-52 years) and 24 with SC (sickle-hemoglobin C disease; 38.5...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Sickle cell disease; SC hemoglobinopathy; Sickle hemoglobinopathies; Inherited hypercoagulation states; MTHFR polymorphism.
Ano: 2006 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2006001000004
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