Şener Elif Funda, Emiroğulları Ömer Naci, Serhatlıoğlu Faruk, Özkul Yusuf
Department of Medical Biology, Faculty of Medicine, Erciyes University; Kayseri-Turkey.
Anadolu Kardiyol Derg. 2014 May;14(3):239-43. doi: 10.5152/akd.2013.4779.
Endothelial nitric oxide synthase (eNOS) gene is a candidate gene in cardiovascular and renal diseases. Several polymorphic variations have been identified in eNOS gene. We investigated a potential role of arteriovenous fistula (AVF) thrombosis and intron 4 and G894T polymorphisms in chronic renal failure.
We performed a case-control observational study involving 79 with/without AVF thrombosis in chronic renal failure patients. All subjects were genotyped by the polymerase chain reaction (PCR) and PCR-Restriction Fragment Length Polymorphism. Genotype distribution and allele frequencies were compared between groups using the chi-square test.
Genotype frequencies in patients with thrombosis were not significantly different from those of patients without thrombosis for eNOS G894T polymorphism (p=0.1). eNOS gene intron 4 a allele distributions seems to be associated with thrombosis in the groups.
This study revealed that there was an association between eNOS intron 4 polymorphism and thrombosis in chronic renal failure patients. This data will be helpful in planning further eNOS association studies in vascular access thrombosis.
内皮型一氧化氮合酶（eNOS）基因是心血管疾病和肾脏疾病的候选基因。已在eNOS基因中鉴定出几种多态性变异。我们研究了动静脉内瘘（AVF）血栓形成以及内含子4和G894T多态性在慢性肾衰竭中的潜在作用。
我们进行了一项病例对照观察性研究，纳入了79例慢性肾衰竭患者，其中有/无AVF血栓形成。所有受试者均通过聚合酶链反应（PCR）和PCR-限制性片段长度多态性进行基因分型。使用卡方检验比较组间的基因型分布和等位基因频率。
对于eNOS G894T多态性，血栓形成患者的基因型频率与无血栓形成患者的基因型频率无显著差异（p=0.1）。在这些组中，eNOS基因内含子4 a等位基因分布似乎与血栓形成有关。
本研究表明，慢性肾衰竭患者中eNOS内含子4多态性与血栓形成之间存在关联。该数据将有助于规划进一步关于血管通路血栓形成的eNOS关联研究。
