Vascular invasion in human breast cancer is correlated to T-->786C polymorphism of NOS3 gene.

Background: Nitric oxide (NO) is a free radical known to be a major regulator of vascular tonus, to inhibit cell proliferation, induce apoptosis, and be a mediator of macrophage cytostatic and cytotoxic effects. Recently, NO synthesis has been reported to be elevated in different cancers and is expected to promote metastasis by maintaining a vasodilator tone in blood vessels in and around the tumour. Two different common genetic polymorphisms were found on endothelial NO synthase (NOS3) gene: Glu298Asp on exon 7 and T-->786C in the promoter region.

A single nucleotide polymorphism in the matrix metalloproteinase-3 promoter enhances breast cancer susceptibility.

Purpose: Matrix metalloproteinases (MMPs) are likely to be involved in invasion and metastasis of several tumors by degrading the extracellular matrix. A single adenine insertion/deletion polymorphism (5A/6A) in the MMP-3 promoter region causes the elevation of transcriptional level and local expression of MMP-3. The aim of this pilot study was to evaluate the impact of this 5A/6A polymorphism on susceptibility and metastasis in breast cancer.

Matrix metalloproteinase-1 and matrix metalloproteinase-3 gene promoter polymorphisms are associated with carotid artery stenosis.

Background And Purpose: The matrix metalloproteinases (MMPs) are a family of enzymes that are important in the resorption of extracellular matrix and are involved in atherogenesis. Recently, 2 common polymorphisms on MMP-1 (1G/2G) and MMP-3 (5A/6A) gene promoters have been described. The aim of this study was to investigate a possible association between MMP polymorphisms and increased risk of internal carotid artery (ICA) stenosis.

Independent risk factor for moderate to severe internal carotid artery stenosis: T786C mutation of the endothelial nitric oxide synthase gene.

Background: NO synthesized from L-arginine by the constitutive endothelial NO synthase (eNOS) plays a key role in the atherosclerotic process. We investigated whether common variants in the NOS3 gene (a T786C mutation in the 5' flanking region and the polymorphism on exon 7 that produced the Glu298Arg polymorphism in the protein) are associated with an increased risk of moderate to severe internal carotid artery (ICA) stenosis.

Methods: We studied 88 patients consecutively operated for ICA stenosis and 133 healthy controls.