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内皮型一氧化氮合酶和烟酰胺腺嘌呤二核苷酸磷酸氧化酶 p22phox 基因(C242T)多态性与中国人群系统性红斑狼疮。

Endothelial nitric oxide synthase and nicotinamide adenosine dinucleotide phosphate oxidase p22phox gene (C242T) polymorphisms and systemic lupus erythematosus in a Chinese Population.

机构信息

Department of Nephrology, The Second Xiangya Hospital of Central South University, Changsha, Hunan, People's Republic of China.

出版信息

Lupus. 2010 Feb;19(2):192-6. doi: 10.1177/0961203309348980. Epub 2009 Dec 4.

Abstract

Genetic polymorphisms in the endothelial nitric oxide synthase (eNOS) and nicotinamide adenosine dinucleotide phosphate (NADPH) oxidase p22phox are linked with the expression and/or progression of vascular disease. We hypothesized that these polymorphisms may influence the development and/or progression of systemic lupus erythematosus (SLE), given their linkage with vascular disease. DNA from patients with SLE (n = 90) and their age- and sex-matched controls (n = 86) from The Second Xiangya Hospital of Central South University was assessed for eNOS and NADPH oxidase p22phox polymorphisms. These polymorphisms were examined by restriction fragment length polymorphism-polymerase chain reaction. The allele frequency of the NADPH oxidase p22phox gene C242T polymorphisms significantly varied between the SLE patients and the controls. We found no association of the eNOS polymorphism with the development of renal disease. These results indicated that the etiology of patients with SLE is associated with NADPH oxidase p22phox gene C242T polymorphisms. There was no significant increased risk of SLE associated with eNOS polymorphisms in the Chinese population.

摘要

内皮型一氧化氮合酶(eNOS)和烟酰胺腺嘌呤二核苷酸磷酸(NADPH)氧化酶 p22phox 的遗传多态性与血管疾病的表达和/或进展有关。鉴于这些多态性与血管疾病有关,我们假设它们可能会影响系统性红斑狼疮(SLE)的发生和/或进展。来自中南大学湘雅二医院的 90 例 SLE 患者及其年龄和性别匹配的对照者(n=86)的 DNA 被评估了 eNOS 和 NADPH 氧化酶 p22phox 多态性。通过限制性片段长度多态性聚合酶链反应来检查这些多态性。NADPH 氧化酶 p22phox 基因 C242T 多态性的等位基因频率在 SLE 患者和对照组之间存在显著差异。我们发现 eNOS 多态性与肾脏疾病的发生无关。这些结果表明,SLE 患者的病因与 NADPH 氧化酶 p22phox 基因 C242T 多态性有关。在中国人群中,eNOS 多态性与 SLE 无显著相关性,也无显著的 SLE 发病风险增加。

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