Association of the PD-1.3A allele of the PDCD1 gene in patients with rheumatoid arthritis negative for rheumatoid factor and the shared epitope
Association of the PD-1.3A allele of the PDCD1 gene in patients with rheumatoid arthritis negative for rheumatoid factor and the shared epitope
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DOI：
10.1002/art.20280
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发表时间：
2004-06-01
影响因子：
--
通讯作者：
Alarcón-Riquelme, M
中科院分区：
文献类型：
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作者：
Prokunina, L;Padyukov, L;Alarcón-Riquelme, M
目的：基于类风湿因子（RF）和共享表位（SE）等位基因的存在情况，研究类风湿关节炎（RA）患者及其亚群中程序性死亡受体1基因（PDCD1）多态性PD - 1.3的等位基因A的频率。
方法：对1175例RA患者和3404例对照进行PD - 1.3 A/G多态性的基因分型，此前该多态性被确定与欧洲血统的系统性红斑狼疮（SLE）易感性有关。
结果：我们首先发现单核苷酸多态性PD - 1.3的等位基因A与RA存在关联趋势（P = 0.053，比值比[OR]为1.18，95%置信区间[95%CI]为0.99 - 1.41）。为了进一步阐明这种关联的性质，根据RF和SE等位基因的存在情况将RA患者分为4组。仅在RF和SE等位基因均为阴性的患者组中发现了关联（P = 0.0054[校正P = 0.015]，OR为1.75，95%CI为1.15 - 2.65）。
结论：RF和SE等位基因均为阴性的患者显示出与我们之前确定的与SLE易感性有关的相同等位基因存在关联。这些结果首次提供了人类PDCD1基因参与关节炎的证据。
Objective. To study the frequency of allele A of polymorphism PD-1.3 of the PDCD1 gene in patients with rheumatoid arthritis (RA) and its subsets, based on the presence of rheumatoid factor (RF) and the shared epitope (SE) alleles.Methods. A total of 1,175 patients with RA and 3,404 controls were genotyped for the PD-1.3 A/G polymorphism, which previously was identified as being involved in susceptibility to systemic lupus erythematosus (SLE) in patients of European descent.Results. We first detected a trend for association of allele A of the single-nucleotide polymorphism PD-1.3 with RA (P = 0.053, odds ratio [OR] 1.18, 95% confidence interval [95% CI] 0.99-1.41). To further clarify the nature of this association, patients with RA were divided into 4 groups according to the presence of RF and the SE alleles. Association was found only in the group of patients negative for both RF and the SE alleles (P = 0.0054 [corrected P = 0.015], OR 1.75, 95% CI 1.15-2.65).Conclusion. Patients negative for both RF and the SE alleles showed association with the same allele that we previously identified as being involved in susceptibility to SLE. These results provide the first evidence of the involvement of the human PDCD1 gene in arthritis.