Endothelial nitric oxide synthase gene polymorphisms in patients with nontralumatic femoral head osteonecrosis
Endothelial nitric oxide synthase gene polymorphisms in patients with nontralumatic femoral head osteonecrosis
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DOI：
10.1002/jor.20164
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发表时间：
2006-08-01
影响因子：
2.8
通讯作者：
Kim, Hee Joong
中科院分区：
文献类型：
--
作者：
Koo, Kyung-Hoi;Lee, Jong Seok;Kim, Hee Joong
由于内皮型一氧化氮合酶（eNOS）对骨骼、血管和血栓形成系统具有有益作用，因此在韩国非创伤性股骨头坏死（FHON）患者中研究了其与eNOS基因多态性之间的关联。分析了103例非创伤性FHON患者（50例为特发性，29例为类固醇诱导，24例为酒精滥用）和103例性别和年龄（3岁范围）匹配的对照组基因组DNA内含子4的27 bp重复多态性和外显子7的Glu 298 Asp多态性。比较患者和对照组的等位基因和基因型频率。4a等位基因频率在所有患者中显著高于对照组[6.8%vs.2.4%，p = 0.0345，比值比（OR）2.931]。在亚组分析中，4a等位基因在特发性FHON患者与对照受试者相比显著增加（9.0% vs. 2.4%，p = 0.0297，OR 3.976）。4a/B基因型在所有患者（13.6% vs. 4.9%，p = 0.0302，OR 3.083）以及特发性FHON患者（18.0% vs. 4.9%，p = 0.0246，OR 4.302）中的频率高于对照组。Glu 298 Asp多态性在两组间的分布差异无统计学意义。eNOS基因第4内含子微星状多态性与韩国特发性FHON显著相关。由于4a等位基因与eNOS合成降低相关，提示内含子4中4a等位基因的携带状态可能是FHON的一个遗传危险因素，并为深入了解NO在FHON发病机制中的保护作用提供了线索。(c)2006骨科研究学会。由威利期刊公司出版
As endothelial nitric oxide synthase (eNOS) has beneficial effects on skeletal, vascular, and thrombotic systems, the association between nontraumatic femoral head osteonecrosis (FHON) and eNOS gene polymorphisms was investigated in Korean patients with FHON. Genomic DNA from 103 patients with nontraumatic FHON (idiopathic in 50, steroid-induced in 29, and alcohol abuse in 24) and 103 control subjects matched for gender and age (3-year range) was analyzed for the 27-bp repeat polymorphism in intron 4 and Glu298Asp polymorphism in exon 7. The frequencies of alleles and genotypes were compared between patients and control subjects. The frequency of 4a allele was significantly higher in total patients than control subjects [6.8% vs. 2.4%, p = 0.0345, odds ratio (OR) 2.931]. In subgroup analysis, the 4a allele significantly increased in patients with idiopathic FHON versus control subjects (9.0% vs. 2.4%, p = 0.0297, OR 3.976). The frequency of the 4a/b genotype in total patients (13.6% vs. 4.9%, p = 0.0302, OR 3.083) as well as patients with idiopathic FHON (18.0% vs. 4.9%, p = 0.0246, OR 4.302) was higher than control subjects. The distribution of Glu298Asp polymorphisms was not significantly different between patients and control subjects. Microstellate polymorphism in intron 4 of eNOS polymorphism was significantly associated with idiopathic FHON in Korean patients. Because 4a allele is associated,kith lower synthesis of eNOS, these results suggest that carrier state of 4a allele in intron 4 might be a genetic risk factor of FHON and could provide insight into the protective role of nitric oxide in the pathogenesis of FHON. (c) 2006 Orthopaedic Research Society. Published by Wiley Periodicals, Inc.