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

Süleyman Ömer Anliaçik

doi:10.3906/sag-1808-57

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 the Anatolian population.Materials and methods This case-control study included 112 patients with “stroke of undetermined etiology” and 160 controls. Real-time polymerase chain reaction (RT-PCR) analysis was used to analyze these polymorphisms. Between-group frequencies of alleles and genotypes 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 the eNOS G894T (rs1799983) polymorphism (P > 0.05). The a alleles and the 4b/a and 4a/a genotypes of the intron 4 (27-bpTR) VNTR polymorphism 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) polymorphism had 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 of ischemic stroke, whereas the intron 4 [27-bpTR] VNTR may be a risk factor in the Anatolian population.

Highlights

According to the WHO, stroke is a clinical syndrome caused by vascular lesion
No significant difference was observed between the two groups in terms of the genotype and allele distributions of the endothelial nitric oxide synthase (eNOS) G894T polymorphism (P > 0.05)
Our findings indicate that the eNOS G894T and T786C [rs2070744] polymorphisms are not associated with the risk of ischemic stroke, whereas the intron 4 [27-bpTR] variable number tandem repeat (VNTR) may be a risk factor in the Anatolian population

Summary

Introduction

According to the WHO, stroke is a clinical syndrome caused by vascular lesion. It is characterized by rapidly occurring clinical symptoms and/or signs of focal or generalized cerebral dysfunction lasting more than 24 h or resulting in death [1].Despite improvements in the treatment of acute stroke, strokes continue to represent the third-leading cause of death in many countries. According to the WHO, stroke is a clinical syndrome caused by vascular lesion. It is characterized by rapidly occurring clinical symptoms and/or signs of focal or generalized cerebral dysfunction lasting more than 24 h or resulting in death [1]. Despite improvements in the treatment of acute stroke, strokes continue to represent the third-leading cause of death in many countries. Identification and prevention of stroke risk factors are gaining increasing importance. 70% of stroke risk is attributed to known etiological risk factors, and genetic factors may account for a significant proportion among the remaining unidentified causes [2]. Polymorphisms affecting various genes, such as angiotensin converting enzyme (ACE), thrombinactivatable fibrinolysis inhibitor (TAFI), and nitric oxide synthase (NOS) genes, as suggested by recent advances

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