Association of a functional single-nucleotide polymorphism of PTPN22, encoding lymphoid protein phosphatase, with rheumatoid arthritis and systemic lupus erythematosus
Association of a functional single-nucleotide polymorphism of PTPN22, encoding lymphoid protein phosphatase, with rheumatoid arthritis and systemic lupus erythematosus
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DOI：
10.1002/art.20771
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发表时间：
2005-01-01
影响因子：
--
通讯作者：
Martín, J
中科院分区：
文献类型：
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作者：
Orozco, G;Sánchez, E;Martín, J
Objective.目的探讨PTPN 22基因1858 C-->T多态性与类风湿关节炎（RA）和系统性红斑狼疮（SLE）两种系统性自身免疫性疾病的易感性和临床表现的关系。我们的研究人群包括826例RA患者，338例SLE患者和1，036例健康受试者。所有受试者均为西班牙白人。采用TaqMan 5 '-等位基因判别分析，采用实时荧光聚合酶链反应技术对PTPN 22基因1858 C-->T多态性进行基因分型。RA患者的基因型总体分布与对照组有显著性差异（P = 0.005，采用2 × 3列联表卡方检验）。我们观察到PTPN 22 1858 T等位基因在健康受试者（7.4%）和RA患者（10.4%）之间的分布存在统计学显著差异（P = 0.001，比值比[OR] 1.45 [95%置信区间（95%CI）1.15-1.83]）。此外，PTPN 22 1858 C/T和T/T基因型在SLE患者中的频率显著高于对照组（P = 0.02，OR 1.55 [95%CI 1.05-2.29]）。PTPN 22 1858 T等位基因在SLE患者中的频率较高（P = 0.03，OR 1.45 [95%CI 1.01-2.09]）。这些结果表明，PTPN 22 1858 T等位基因可能赋予不同的易感性RA和SLE在西班牙人口。
Objective. To assess the possible association between the PTPN22 gene 1858C-->T polymorphism and the predisposition and clinical expression of 2 systemic autoimmune diseases, rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE).Methods. Our study population consisted of 826 RA patients, 338 SLE patients, and 1,036 healthy subjects. All subjects were of Spanish Caucasian origin. Genotyping of the PTPN22 gene 1858C-->T polymorphism was performed by real-time polymerase chain reaction technology, using the TaqMan 5'-allele discrimination assay.Results. The overall distribution of genotypes in the RA patients was significantly different from that in the controls (P = 0.005, by chi-square test with 2 x 3 contingency tables). We observed a statistically significant difference in the distribution of the PTPN22 1858T allele between healthy subjects (7.4%), and RA patients (10.4%) (P = 0.001, odds ratio [OR] 1.45 [95% confidence interval (95% CI) 1.15-1.83]). In addition, PTPN22 1858 C/T and T/T genotypes were present at a significantly higher frequency in SLE patients than in controls (P = 0.02, OR 1.55 [95% CI 1.05-2.29]). Differences were also observed when allele frequencies were compared, with the PTPN22 1858T allele being present at a higher frequency among SLE patients (P = 0.03, OR 1.45 [95% CI 1.01-2.09]).Conclusion. These results suggest that the PTPN22 1858T allele may confer differential susceptibility to RA and SLE in the Spanish population.