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The synergic effect of the E298D polymorphism of the endothelial nitric oxide synthase gene and smoking status on the risk of cerebral stroke

  • Human Genetics
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Abstract

Violations of the endothelium-dependent regulation of cerebral vessel tone are an important link in the pathogenesis of cerebrovascular disorders. The purpose of this study was to investigate the association of −786T>C and E298D polymorphisms of the endothelial nitric oxide synthase (NOS3) gene with the risk of cerebral stroke (CS) in Russian inhabitants of Central Russia, as well as to evaluate the trigger effect of smoking on the risk of CS in carriers of genotypes NOS3. Genotyping of −786T>C and E298D polymorphisms of the NOS3 gene was carried out in 480 CS patients and 424 almost healthy volunteers using real time PCR and TaqMan allele discrimination assays. It was determined that the genotype 298DD is associated with the risk of CS (OR = 1.71, 95% CI = 1.05–2.78, P = 0.03). Subsequent analysis showed that genotype 298DD (OR = 3.75; 95% CI = 1.39–10.11; P = 0.01) is associated with an increased risk of CS exclusively in smoking individuals. The combination of genotypes −786T/C × 298D/D was associated with the risk of CS in smokers (OR = 7.71; 95% CI = 1.31–45.34; P = 0.02). In the present study, it was found that smoking status is a significant modifying risk factor for cerebral stroke in the carriers of the 298DD and −786T/C genotypes of endothelial nitric oxide synthase.

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Correspondence to O. Yu. Bushueva.

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Original Russian Text © O.Yu. Bushueva, T.A. Stetskaya, T.V. Korogodina, V.P. Ivanov, A.V. Polonikov, 2015, published in Genetika, 2015, Vol. 51, No. 2, pp. 256–262.

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Bushueva, O.Y., Stetskaya, T.A., Korogodina, T.V. et al. The synergic effect of the E298D polymorphism of the endothelial nitric oxide synthase gene and smoking status on the risk of cerebral stroke. Russ J Genet 51, 204–209 (2015). https://doi.org/10.1134/S1022795415020052

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  • DOI: https://doi.org/10.1134/S1022795415020052

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