Aranda Federico, Perés Wingeyer Silvia D, Schneeberger Emilce, Valerio María, Saint Martin Emilia, Dal Pra Fernando, Correa María de Los Ángeles, Citera Gustavo, Martínez Liliana, Mannucci Pablo, Remondino Graciela, de Larrañaga Gabriela F
Hemostasis and Thrombosis Laboratory, Hospital of Infectious Diseases "F. J. Muñiz", Buenos Aires, Argentina.
Rheumatology Section, Instituto de Rehabilitación Psicofísica (IREP), Buenos Aires, Argentina.
Int J Rheum Dis. 2016 May;19(5):476-81. doi: 10.1111/1756-185X.12343. Epub 2014 Mar 27.
A polymorphism in the tumor necrosis factor-alpha (TNF-α) promoter region has been associated with disease susceptibility and progression in rheumatoid arthritis (RA). The presence of an adenosine (TNF2 allele) instead of a guanine (TNF1 allele) at position -308 may be responsible for a general increase in the transcriptional activity of the TNF-α gene. Our aim was to evaluate the association of the TNF2 allele with the risk of disease development and/or progression of RA in an Argentine population cohort.
Two hundred and twenty-three consecutive patients with RA according to the 1987 criteria of the American College of Rheumatology were included in the study. Clinical variables, Disease Activity Score 28, Health Assessment Questionnaire and Rheumatoid Arthritis Quality of Life were recorded. The radiographic erosions were determined by the method of Sharp/van der Heijde. A group of 111 healthy subjects matched by sex and age was used as a control. All samples were genotyped for the -308 G/A TNF-α polymorphism.
No significant differences were observed either in the frequency of the TNF2 allele or in the genotypic distributions of the -308 G/A TNF-α polymorphism (P > 0.05) between the control group and the RA patients. No association was found between the TNF2 allele and the variables related to the course and outcome of the disease (P > 0.05).
In this cohort of Argentinean patients with RA, the TNF2 allele was neither associated with susceptibility to the disease nor was it associated with the variables related to the course and outcome of the disease.
肿瘤坏死因子-α(TNF-α)启动子区域的多态性与类风湿关节炎(RA)的疾病易感性及病情进展相关。在-308位点存在腺苷(TNF2等位基因)而非鸟嘌呤(TNF1等位基因)可能是TNF-α基因转录活性普遍增加的原因。我们的目的是评估TNF2等位基因与阿根廷人群队列中RA疾病发生风险和/或病情进展的相关性。
本研究纳入了223例符合1987年美国风湿病学会标准的连续RA患者。记录临床变量、疾病活动评分28、健康评估问卷和类风湿关节炎生活质量。采用Sharp/van der Heijde方法确定影像学侵蚀情况。选取111名年龄和性别匹配的健康受试者作为对照。所有样本均进行-308 G/A TNF-α多态性基因分型。
对照组与RA患者在TNF2等位基因频率或-308 G/A TNF-α多态性的基因型分布上均未观察到显著差异(P>0.05)。未发现TNF2等位基因与疾病病程及转归相关变量之间存在关联(P>0.05)。
在这个阿根廷RA患者队列中,TNF2等位基因既与疾病易感性无关,也与疾病病程及转归相关变量无关。