Orthopaedic and Traumatology Department, Medical University of Lublin, ul. Dr K Jaczewskiego 8, 20-954, Lublin, Poland.
Int Orthop. 2013 Jul;37(7):1381-5. doi: 10.1007/s00264-013-1892-7. Epub 2013 Apr 19.
Nitric oxide (NO) synthesised by endothelial NO synthase (eNOS) is a potent regulator of internal haemodynamics. A polymorphism in intron 4 of the eNOS is associated with different vascular disorders. We investigated the potential involvement of this polymorphism in idiopathic and secondary osteonecrosis of the femoral head (ONFH) in Polish patients.
We performed a study involving 68 patients with ONFH (45 idiopathic and 23 secondary) and 100 healthy controls. All subjects were genotyped for the eNOS4 polymorphism by the polymerase chain reaction followed by agarose gel electrophoresis.
The analysis revealed that the frequencies of eNOS4 genotypes were significantly different in ONFH patients (both idiopathic and secondary) than in controls. The frequencies of the 4a allele were significantly higher in the total group of patients versus controls [22.79 vs 9%, p = 0.00039, odds ratio (OR) 2.98]. In subgroup analysis the 4a allele increased significantly in both idiopathic (20 vs 9%, p = 0.0074, OR = 2.52) and secondary (28.26 vs 9%, p = 0.00047, OR = 3.98) ONFH patients compared to control subjects. The frequency of the 4a/b genotype in the total group of patients (36.76 vs 16%, p = 0.0011, OR = 3.24) as well as patients with idiopathic (35.56 vs 16%, p = 0.0069, OR = 2.96) and secondary (39.13 vs 16 %, p = 0.0073, OR = 3.89) ONFH was higher than in the control group.
There was a significantly higher frequency of eNOS 4a allele carriers among the total group of patients as well as in idiopathic and secondary ONFH. This suggests that the eNOS gene polymorphism may be associated with increased risk of ONFH.
内皮型一氧化氮合酶（eNOS）合成的一氧化氮（NO）是内部血液动力学的有力调节剂。eNOS 内含子 4 中的一个多态性与不同的血管疾病有关。我们研究了这种多态性在波兰患者特发性和继发性股骨头坏死（ONFH）中的潜在作用。
我们对 68 名 ONFH 患者（45 名特发性和 23 名继发性）和 100 名健康对照者进行了一项研究。所有受试者均通过聚合酶链反应（PCR）结合琼脂糖凝胶电泳进行 eNOS4 多态性基因分型。
分析显示，ONFH 患者（特发性和继发性）的 eNOS4 基因型频率与对照组有显著差异。4a 等位基因在患者总数中显著高于对照组[22.79%比 9%，p=0.00039，比值比（OR）2.98]。亚组分析显示，4a 等位基因在特发性（20%比 9%，p=0.0074，OR=2.52）和继发性（28.26%比 9%，p=0.00047，OR=3.98）ONFH 患者中均显著增加。4a/b 基因型在患者总数（36.76%比 16%，p=0.0011，OR=3.24）中以及特发性（35.56%比 16%，p=0.0069，OR=2.96）和继发性（39.13%比 16%，p=0.0073，OR=3.89）ONFH 患者中也高于对照组。
在患者总数以及特发性和继发性 ONFH 患者中，eNOS4a 等位基因携带者的频率明显较高。这表明 eNOS 基因多态性可能与 ONFH 的发病风险增加有关。
