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Clinical Chemistry 48: 989-993, 2002;
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(Clinical Chemistry. 2002;48:989-993.)
© 2002 American Association for Clinical Chemistry, Inc.

Independent Risk Factor for Moderate to Severe Internal Carotid Artery Stenosis: T786C Mutation of the Endothelial Nitric Oxide Synthase Gene

Giorgio Ghilardi1a, Maria Luisa Biondi2, Marco DeMonti1, Mara Bernini2, Olivia Turri2, Federico Massaro1, Emma Guagnellini2 and Roberto Scorza1

1 Dipartimento di Medicina, Chirurgia e Odontoiatria, Clinica Chirurgica Generale, Università degli Studi di Milano-Polo S. Paolo, Via A. Di Rudinì 8, I-20142 Milan, Italy

2 Laboratorio di Chimica Clinica e Microbiologia, Ospedale S. Paolo-Polo Universitario, Via A. Di Rudinì 8, I-20142 Milan, Italy

aAuthor for correspondence. Fax 39-02-8137613; e-mail giorgio.ghilardi{at}unimi.it.

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. A T786C mutation in the 5' flanking region and the polymorphism in exon 7 that produces the Glu298Asp polymorphism in the protein were explored by PCR and fluorescent probe analysis.

Results: Genotype distribution was significantly different between patients and controls only for T786C, the CC genotype frequency being 26% and 13%, respectively [odds ratio (OR), 2.26; 95% confidence interval (CI), 1.14–4.46; P = 0.018]. Moreover, the CC genotype was significantly more frequent in a subgroup of patients with ulcerative plaques compared with patients with nonulcerative lesions (44% vs 17%; OR, 3.82; 95% CI, 1.79–8.14; P = 0.003). Multiple logistic regression analysis using the most frequent risk factors and the eNOS gene variant showed that the CC genotype is an independent risk factor for ICA stenosis (P = 0.023).

Conclusion: C allele homozygosity in position 786 of the eNOS promoter seems to be an independent risk factor for the development of moderate to severe ICA stenosis, especially ulcerative lesions.




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