Investigation of the relationship between ischemic stroke and endothelial nitric oxide synthase gene polymorphisms [G894T, intron 4 VNTR and T786C]

Abstract

Background/aim: We aimed to investigate the associations between endothelial nitric oxide synthase (eNOS) gene polymorphisms[G894T (rs1799983)], intron 4 (27-bpTR) variable number tandem repeat (VNTR) and T786C (rs2070744), and ischemic stroke in theAnatolian population.Materials and methods: This case-control study included 112 patients with “stroke of undetermined etiology” and 160 controls. Realtime polymerase chain reaction (RT-PCR) analysis was used to analyze these polymorphisms. Between-group frequencies of alleles andgenotypes were compared using binary logistic regression analysis.Results: No significant difference was observed between the two groups in terms of the genotype and allele distributions of theeNOS G894T (rs1799983) polymorphism (P > 0.05). The a alleles and the 4b/a and 4a/a genotypes of the intron 4 (27-bpTR) VNTRpolymorphism had significantly higher frequencies in the patient group than in the control group (OR: 2.715, P < 0.001; OR: 3.396,P < 0.001; OR: 10.631, P = 0.016, respectively). On the contrary, the TC genotype and C alleles of the T786C (rs2070744) polymorphismhad a significantly lower frequency in the patient group than in the control group (OR: 0.244, P < 0.001, OR: 0.605, P = 0.006, respectively).Conclusion: Our findings indicate that the eNOS G894T and T786C [rs2070744] polymorphisms are not associated with the risk ofischemic stroke, whereas the intron 4 [27-bpTR] VNTR may be a risk factor in the Anatolian population.