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Matrix metalloproteinase gene polymorphisms in patients with coronary artery disease Genet. Mol. Biol.
Dalepiane,Vanessa L.N.; Silvello,Daiane N.; Paludo,Crislaine A.; Roisenberg,Israel; Simon,Daniel.
Matrix metalloproteinases (MMPs) play an important role in the pathogenesis of atherosclerosis, the pathology underlying the majority of coronary artery disease (CAD). In this study we tested the hypothesis that polymorphic variation in the MMP genes influences the risk of developing atherosclerosis. We analyzed functional polymorphisms in the promoter of the MMP-1, MMP-3, MMP-9 and MMP-12 genes in 183 Brazilian Caucasian individuals submitted to coronary angiography, of which 67 (37%) had normal coronary arteries (control group) and 116 (63%) had CAD (CAD patient group). The -1607 1G/2G MMP-1, -1171 5A/6A MMP-3, -1562 C/T MMP-9, -82 A/G MMP-12 polymorphisms were analyzed by PCR followed by restriction digestion. No significant differences were observed in...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Atherosclerosis; Coronary artery disease; Gene polymorphisms; Matrix metalloproteinases.
Ano: 2007 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000400001
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Polymorphism in the promoter region of von Willebrand factor gene and von Willebrand disease type 1 Genet. Mol. Biol.
Simon,Daniel; Bandinelli,Eliane; Roisenberg,Israel.
The -1185A/G polymorphism in the 5'-regulatory region of the von Willebrand factor (VWF) gene was associated with VWF plasma levels in a normal population. This study was undertaken to evaluate whether there is a relationship between this polymorphism and type 1 von Willebrand disease (VWD), a disorder characterized by a quantitative deficiency of VWF. The association between this polymorphism and plasma VWF levels in normal Brazilian individuals was also analyzed. Control subjects (n = 460) and type 1 VWD patients (n = 41) were studied. Polymerase chain reaction (PCR) amplification of the 864-bp VWF promoter region followed by AccII restriction-digestion was used to identify the -1185A/G genotypes. The -1185G allele frequency was 57% in normal individuals...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Von Willebrand factor; Promoter polymorphisms; Genetics; Von Willebrand disease.
Ano: 2003 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572003000400001
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