RESUMEN
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--86T>C and E298D polymorphisms of the endothelial nitric oxide synthase(NOS3) gene with the risk of ce-ebral 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 through real time. CR and TaqMan allele discrimination assays. It was deter-ined that the genotype 298DD is associated with the risk of CS (OR =-1.71, 95% CII= 1.05-2.78, P= 0.03). Subsequent analysis showed that genotype 298 DD (OR = 3.75; 95% CII= 1.39-10.11; P= 0.01) is associatedw ith an increased risk of CS exclusively in smoking individuals. The combination ofg enotypes -786T/Cx298D/D was associated with the risk of CS. n smokers (OR = 7.71; 95% CI = 1.31-45.34; P = 0.02). In the present study, it was found that smoking is a significant modifying risk factor for cerebral stroke in the carriers of the 298DD and -786T/C. enotypes of endothelial nitric oxide synthase.
Asunto(s)
Predisposición Genética a la Enfermedad , Óxido Nítrico Sintasa de Tipo III/genética , Fumar/efectos adversos , Accidente Cerebrovascular/genética , Anciano , Alelos , Femenino , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Polimorfismo de Nucleótido Simple , Factores de Riesgo , Federación de Rusia , Fumar/genética , Accidente Cerebrovascular/patología , Población BlancaRESUMEN
AIM: To investigate the association between LPL HindIII (rs320) and CETP Taq1b (rs708272) polymorphisms with the risk of atherothrombotic stroke (ATS) in the population of Central Russia. MATERIAL AND METHODS: A total of 832 DNA samples obtained from 417 patients with ATS and from 415 healthy individuals of the corresponding gender and age were investigated. The polymorphisms were genotyped by a real-time PCR assay using TaqMan probes. RESULTS: The carriage of heterozygous LPL +495TG genotype was found to be associated with the lower risk of ATS (odds ratio (OR)=0.71; 95% CI: 0.53-0.94; p=0.02). A gender-stratified analysis showed that in the men the variant LPL +495TG genotype was associated with the increased risk of ATS (OR=2.06; 95% CI: 1.03-4.14; Ñ=0.04) while the heterozygous +495GG genotype had a protective effect against the risk of stroke (OR=0.66; 95% CI: 0.45-0.97; Ñ=0.04). Variance analysis established that this polymorphism was found to be associated with the increased prothrombin index in the men with ATS (p=0.01). CONCLUSION: This study was the first to reveal the association of the LPL HindIII (rs320) polymorphism with the increased prothrombin index and the risk of ATS in the Russian male population.