Ozüm U, Bolat N, Gül E, Ozdemir O
Department of Neurosurgery, Cumhuriyet University School of Medicine, Sivas, Turkey.
Acta Neurochir (Wien). 2008 Jan;150(1):57-61; discussion 62. doi: 10.1007/s00701-007-1467-8. Epub 2007 Nov 30.
The exact aetiology, growth and rupture of intracranial aneurysms is unclear. In this study we investigated a possible association between intracranial aneurysm rupture and polymorphism of the endothelial nitric oxide synthase gene G894T.
Endothelial nitric oxide synthase gene polymorphism of 53 patients with ruptured intracranial aneurysms and 60 control subjects were analysed by the polymerase chain reaction-restriction fragment length polymorphism technique. The genotype distribution and allele frequencies of endothelial nitric oxide synthase gene polymorphism in patients with ruptured intracranial aneurysm and healthy subjects were compared.
The homozygous (TT) genotype frequency was significantly higher in patients with ruptured intracranial aneurysms. It was also found that the presence of eNOS 894TT genotype was significantly associated with the risk of intracranial aneurysm rupture (p < 0.05).
Polymorphism in exon 7 of the endothelial nitric oxide synthase gene G894T seems to be a possible risk factor for intracranial aneurysm rupture.
颅内动脉瘤的确切病因、生长及破裂机制尚不清楚。在本研究中，我们调查了颅内动脉瘤破裂与内皮型一氧化氮合酶基因G894T多态性之间可能存在的关联。
采用聚合酶链反应-限制性片段长度多态性技术，分析53例颅内动脉瘤破裂患者和60例对照者的内皮型一氧化氮合酶基因多态性。比较颅内动脉瘤破裂患者和健康受试者中内皮型一氧化氮合酶基因多态性的基因型分布及等位基因频率。
颅内动脉瘤破裂患者中纯合子（TT）基因型频率显著更高。还发现eNOS 894TT基因型的存在与颅内动脉瘤破裂风险显著相关（p < 0.05）。
内皮型一氧化氮合酶基因G894T第7外显子的多态性似乎是颅内动脉瘤破裂的一个可能危险因素。
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