M Carpio Alvarez, A Cintado Benitez, T Diaz Argudin, H Nodarse Cuni, M D C Dominguez Horta, J R Fernández Massó
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引用次数: 0
Abstract
Objective: To evaluate the association of the rs11125908 polymorphism in the COMMD1 gene in the Cuban population with rheumatoid arthritis (RA).
Methods: In this case-control study, 161 RA patients and 150 control subjects were genotyped for rs11125908 by the allele-specific polymerase chain reaction method. DNA sequencing was used to verify the assignation of the polymorphism. The odds ratios (OR) and their 95% confidence interval were calculated by logistic regression to determine the associations between genotypes and RA using the SNPStats software.
Results: An association of the single nucleotide polymorphism with the disease was found in the overdominant model (p=0.025; OR=1.91) for the AG genotype. Our analyses revealed an association between rs11125908 and the subgroup of patients with swollen joints < median under the codominant model for AG (p=0.034; OR=2.30) and GG genotype (p=0.034; OR=0.82) and with the overdominant model (p=0.01; OR=2.38). The subgroup of patients with an age of onset lower than the mean and AG genotype showed an association in the overdominant model (p=0.027; OR=2.27). Disease activity score 28 with erythrocyte sedimentation rate and disease duration variables were not associated with the rs11125908 polymorphism.
Conclusions: rs11125908 was associated with RA and with the number of swollen joints and age of onset subgroup analyses. We provide concepts for treatments for RA, based on pharmacological management of COMMD1 expression.
目的评估古巴人群中 COMMD1 基因 rs11125908 多态性与类风湿关节炎(RA)的相关性:在这项病例对照研究中,采用等位基因特异性聚合酶链反应法对161名RA患者和150名对照组进行了rs11125908基因分型。DNA 测序用于验证多态性的归属。利用SNPStats软件,通过逻辑回归计算出几率比(OR)及其95%置信区间,以确定基因型与RA之间的关联:在AG基因型的超显性模型中发现了单核苷酸多态性与疾病的关联(P=0.025;OR=1.91)。我们的分析显示,在AG基因型(p=0.034;OR=2.30)和GG基因型(p=0.034;OR=0.82)的共显性模型下(p=0.01;OR=2.38),rs11125908与关节肿胀<中位数的亚组患者存在关联。发病年龄低于平均年龄和 AG 基因型的患者亚组在超显性模型中显示出相关性(p=0.027;OR=2.27)。结论:rs11125908 与 RA 以及关节肿胀数量和发病年龄亚组分析相关。我们基于对 COMMD1 表达的药理学管理,提出了治疗 RA 的概念。
期刊介绍:
Reumatismo is the official Journal of the Italian Society of Rheumatology (SIR). It publishes Abstracts and Proceedings of Italian Congresses and original papers concerning rheumatology. Reumatismo is published quarterly and is sent free of charge to the Members of the SIR who regularly pay the annual fee. Those who are not Members of the SIR as well as Corporations and Institutions may also subscribe to the Journal.