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肿瘤坏死因子-α-308 G/A 启动子多态性与类风湿关节炎易感性及疾病特征的关联。

Association of tumour necrosis factor-alpha -308 G/A promoter polymorphism with susceptibility and disease profile of rheumatoid arthritis.

机构信息

Clinical Immunology Unit, Clinical Pathology Department, Mansoura Faculty of Medicine, Mansoura, Egypt.

出版信息

Int J Immunogenet. 2011 Oct;38(5):427-33. doi: 10.1111/j.1744-313X.2011.01028.x. Epub 2011 Aug 2.

Abstract

The objective was to analyze the possible involvement of tumour necrosis factor-alpha (TNF-α) -308 G/A promoter polymorphism in the susceptibility and/or the disease profile of rheumatoid arthritis (RA) in Egyptian patients. TNF-α-308 G/promoter polymorphism detection by amplification refractory mutation system (ARMS) technique was carried out for 122 RA patients and 120 healthy controls. TNF-α-308 G allele/GG homozygous genotype were higher in patients with rheumatoid arthritis than those in control group (P < 0.001, respectively). A statistically significant association was found between the frequency of the A allele and presence of erosion (OR = 3.42, P = 0.015). No associations were found between the distribution of TNF-α-308 G/A alleles/genotypes and age of patients, disease duration, absence of remission, presence of deformity, clinical manifestations of the disease and presence or absence of rheumatoid factor. The positivity of rheumatoid factor was associated with occurrence of erosion (OR = 25.0, P < 0.001). The results of this study demonstrate the association of the TNF-α-308 G allele and GG homozygous genotype with susceptibility to RA and the A allele with the presence of erosion in the Egyptian patients.

摘要

目的在于分析肿瘤坏死因子-α(TNF-α)-308 G/A 启动子多态性在埃及患者类风湿关节炎(RA)易感性和/或疾病谱中的可能作用。采用扩增受阻突变系统(ARMS)技术对 122 例 RA 患者和 120 名健康对照者进行 TNF-α-308 G/启动子多态性检测。与对照组相比,RA 患者 TNF-α-308 G 等位基因/ GG 纯合基因型更高(P<0.001)。在侵蚀的发生与 A 等位基因的频率之间发现了统计学上的显著关联(OR=3.42,P=0.015)。TNF-α-308 G/A 等位基因/基因型的分布与患者的年龄、疾病持续时间、无缓解、畸形存在、疾病的临床表现以及类风湿因子的存在与否之间均无关联。类风湿因子的阳性与侵蚀的发生相关(OR=25.0,P<0.001)。本研究结果表明,TNF-α-308 G 等位基因和 GG 纯合基因型与 RA 的易感性相关,A 等位基因与埃及患者的侵蚀发生相关。

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