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首页> 外文期刊>Clinica chimica acta: International journal of clinical chemistry and applied molecular biology >Lack of association of eNOS (G894T) and p22(phox) NADPH oxidase subunit (C242T) polymorphisms with systemic sclerosis in a cohort of French Caucasian patients.
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Lack of association of eNOS (G894T) and p22(phox) NADPH oxidase subunit (C242T) polymorphisms with systemic sclerosis in a cohort of French Caucasian patients.

机译:一群法国高加索患者缺乏eNOS(G894T)和p22(phox)NADPH氧化酶亚基(C242T)多态性与系统性硬化症的关联。

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OBJECTIVE: To assess the influence of endothelial nitric oxide synthase (eNOS) and nicotinamide adenine dinucleotide phosphate (NADPH) oxidase polymorphisms on the susceptibility of patients to and clinical expression of systemic sclerosis (SSc). METHODS: Seventy-seven French Caucasian patients with SSc were studied. Patients and ethnically matched controls (n=49) were genotyped, by restriction enzyme digestion of polymerase chain reaction (PCR) products, for G894T polymorphism in exon 7 of the eNOS gene and for C242T polymorphism of the gene encoding the p22(phox) NADPH oxidase subunit. RESULTS: The allele and genotype frequencies of the polymorphisms did not differ between patients with SSc and the controls. Moreover, there was no association between these polymorphisms and disease phenotypes. CONCLUSION: Our results indicate that eNOS (G894T) and p22(phox) (C242T) polymorphisms do not influence susceptibility to and the course of systemic sclerosis.
机译:目的:评估内皮型一氧化氮合酶(eNOS)和烟酰胺腺嘌呤二核苷酸磷酸(NADPH)氧化酶多态性对患者对全身性硬化症(SSc)的敏感性和临床表达的影响。方法:对77名法国白人SSc患者进行了研究。通过限制性酶切聚合酶链反应(PCR)产品,对患者和种族匹配的对照(n = 49)进行基因分型,确定eNOS基因第7外显子的G894T多态性和编码p22(phox)NADPH的基因的C242T多态性氧化酶亚基。结果:SSc患者与对照组的多态性等位基因和基因型频率无差异。而且,这些多态性与疾病表型之间没有关联。结论:我们的结果表明,eNOS(G894T)和p22(phox)(C242T)多态性不影响对系统性硬化的敏感性和病程。

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