2nd Department of Trauma & Orthopaedics, "Agia Olga" Hospital, University of Athens Medical School, N. Ionia, 14233, Athens, Greece.
Mol Biol Rep. 2013 Sep;40(9):5491-9. doi: 10.1007/s11033-013-2649-5. Epub 2013 Aug 7.
Osteoarthritis (OA) is the most common form of arthritis with still unknown pathogenic etiology and considerable contribution of genetic factors. Recently, a new emerging role of oxidative stress in the pathology of OA has been reported, lacking however elucidation of the underlying mechanism. Nicotinamide adenine dinucleotide phosphate (NADPH) oxidase being a complex enzyme produced by chondrocytes, presents the major source of reactive oxygen species and main contributor of increased oxidative stress. The present study aims to evaluate the association of NADPH oxidase p22phox gene C242T, A640G and -A930G polymorphisms with primary knee OA in the Greek population. One hundred fifty five patients with primary symptomatic knee OA participated in the study along with 139 matched controls. Genotypes were determined using polymerase chain reaction and restriction fragment length polymorphism technique. Allelic and genotypic frequencies were compared between both study groups. NADPH p22phox -A930G polymorphism was significantly associated with knee OA in the crude analysis (P = 0.018). No significant difference was detected for C242T and A640G polymorphisms (P > 0.05). The association between -A930G polymorphism and knee OA disappeared when the results were adjusted for obesity (P = 0.078, odds ratio 0.54, 95 % CI 0.272-1.071). The interaction between all three polymorphisms was not significant. The present study shows that NADPH oxidase p22phox gene C242T, A640G and -A930G polymorphisms are not risk factors for knee OA susceptibility in the Greek population. Further studies are needed to give a global view of the importance of this polymorphism in the pathogenesis of OA.
骨关节炎（OA）是最常见的关节炎形式，其发病机制尚不清楚，遗传因素有相当大的贡献。最近，有报道称氧化应激在 OA 病理中的新作用，但尚未阐明其潜在机制。烟酰胺腺嘌呤二核苷酸磷酸（NADPH）氧化酶是软骨细胞产生的一种复杂酶，是活性氧的主要来源，也是氧化应激增加的主要贡献者。本研究旨在评估 NADPH 氧化酶 p22phox 基因 C242T、A640G 和 -A930G 多态性与希腊人群原发性膝骨关节炎的相关性。155 例原发性膝关节症状性 OA 患者和 139 例匹配对照者参与了本研究。采用聚合酶链反应和限制性片段长度多态性技术检测基因型。比较两组研究对象的等位基因和基因型频率。在粗分析中，NADPH p22phox -A930G 多态性与膝骨关节炎显著相关（P=0.018）。C242T 和 A640G 多态性无显著差异（P>0.05）。当结果调整为肥胖时，-A930G 多态性与膝骨关节炎的相关性消失（P=0.078，比值比 0.54，95%可信区间 0.272-1.071）。三种多态性之间的相互作用不显著。本研究表明，NADPH 氧化酶 p22phox 基因 C242T、A640G 和 -A930G 多态性不是希腊人群膝骨关节炎易感性的危险因素。需要进一步的研究来全面了解这种多态性在 OA 发病机制中的重要性。
