Kanamış kafa içi anevrizması olan hastalarda endotelyal nitrik oksit sentaz (eNOS) geninin intron 4 (27 baz çifti tekrarı) ve promoter T786C polimorfizmi

Aim. Nitric oxide synthesis, 3-isoform in the nitric oxide synthase is regulated by the enzyme. These endothelial nitric oxide synthase (eNOS), neuronal nitric oxide synthase (nNOS) and inducible nitric oxide synthase (iNOS). eNOS, regulates the diameter of arterial vessels. Functional activity is outside the structural activity. In this study, eNOS gene, a structural vascular pathology of the two polymorphisms which compared the relationship between ruptured intracranial aneurysm. Method. Endothelial nitric oxide synthase gene intron 4 (27 base pair repeat) and promoter T786C polymorphism of 43 patients with ruptured intracranial aneurysms and 46 control subjects were analysed by polymerase chain reaction and DNA sequencing method. Genotype distribution and allele frequencies of endothelial nitric oxide synthase gene polymorphism in patients with ruptured intracranial aneurysm and healthy subjects were compared. Result. CC genotype frequency was significantly higher in patients with ruptured intracranial aneurysm. It was also found that presence of eNOS 786 CC genotype was significantly associated with risk of intracranial aneurysm rupture (p<0.05). No significant difference was found between patient and control groups as to endothelial nitric oxide synthase gene intron 4 (27 base pair repeat) polymorphism (p>0.05). Conclusion. T786C polymorphism in endothelial nitric oxide synthase gene seems to be a possible risk factor for intracranial aneurysm rupture

Özet

Amaç. Nitrik Oksit (NO) sentezi, 3 izoformu bulunan nitrik oksit sentaz enzimi tarafından düzenlenmektedir. Bunlar Endotelyal Nitrik Oksit Sentaz (eNOS), nöronal nitrik oksit sentaz (nNOS) ve indüklenebilir nitrik oksit sentaz (iNOS). ENOS, arter damar çapını düzenlemektedir, İşlevsel etkinliği dışında yapısal etkinliği de tespit edilmiştir. Bu çalışmada eNOS genindeki iki polimorfizmle bir yapısal damar patolojisi olan kanamış kafa içi anevrizma varlığı arasındaki ilişki araştırıldı. Yöntem. Kanamış kafa içi anevrizması olan 43 hasta ve 46 sağlıklı bireyin DNA'larında eNOS geni intron 4 (27 baz çifti tekrarı) ve promoter T786C polimorfizmi jel elektroforez ve dizileme tekniği ile incelendi. Bulgular. CC homozigot genotip varlığı kanamış kafa içi anevrizması olan hasta grubunda anlamlı olarak yüksek olarak tespit edilmiştir (p<0,05). Hasta ve kontrol grupları arasında intron 4 (27 baz çifti tekrarı) açısından anlamlı fark tespit edilememiştir (p>0,05). Sonuç. Homozigot T786C genotip varlığı çalışmaya aldığımız yöresel hasta grubunda kanamış kafa içi anevrizma varlığı açısından risk sebebi olarak görülmektedir. İntron 4 (27 baz çifti tekrarı) polimorfizminin varlığı ise risk teşkil etmemektedir.

Anahtar sözcükler: eNOS, nitrik oksit, anevrizma, SAK, polimorfizm

 

Abstract

Aim. Nitric oxide synthesis, 3-isoform in the nitric oxide synthase is regulated by the enzyme. These endothelial nitric oxide synthase (eNOS), neuronal nitric oxide synthase (nNOS) and inducible nitric oxide synthase (iNOS). eNOS, regulates the diameter of arterial vessels. Functional activity is outside the structural activity. In this study, eNOS gene, a structural vascular pathology of the two polymorphisms which compared the relationship between ruptured intracranial aneurysm. Method. Endothelial nitric oxide synthase gene intron 4 (27 base pair repeat) and promoter T786C polymorphism of 43 patients with ruptured intracranial aneurysms and 46 control subjects were analysed by polymerase chain reaction and DNA sequencing method. Genotype distribution and allele frequencies of endothelial nitric oxide synthase gene polymorphism in patients with ruptured intracranial aneurysm and healthy subjects were compared. Result. CC genotype frequency was significantly higher in patients with ruptured intracranial aneurysm. It was also found that presence of eNOS 786 CC genotype was significantly associated with risk of intracranial aneurysm rupture (p<0.05). No significant difference was found between patient and control groups as to endothelial nitric oxide synthase gene intron 4 (27 base pair repeat) polymorphism (p>0.05). Conclusion. T786C polymorphism in endothelial nitric oxide synthase gene seems to be a possible risk factor for intracranial aneurysm rupture

Keywords: eNOS, Nitric oxide, intracranial aneurysm, SAH, polymorphism