Effects of PTPN22 C1858T polymorphism on susceptibility and clinical characteristics of British Caucasian rheumatoid arthritis patients
Effects of PTPN22 C1858T polymorphism on susceptibility and clinical characteristics of British Caucasian rheumatoid arthritis patients
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DOI：
10.1093/rheumatology/kei250
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发表时间：
2006-08-01
期刊：
影响因子：
5.5
通讯作者：
Wordsworth, B. P.
中科院分区：
文献类型：
--
作者：
Harrison, P.;Pointon, J. J.;Wordsworth, B. P.
目标.目的：探讨PTPN 22基因C1858 T（rs 2476601）多态性与英国白种人类风湿关节炎（RA）的相关性，并评估其对RA表型的影响。共686例RA患者和566名健康志愿者，所有的英国白人的起源，基因型C1858 T多态性的PCR-限制性片段长度多态性分析。资料分析采用SPSS软件包，卡方检验。PTPN 22 1858 T危险等位基因在RA患者中的患病率（13.9%）高于健康对照组（10.3%）（P=0.008，OR 1.4，95%可信区间1.09-1.79）。T等位基因的关联仅限于类风湿因子（RF）阳性疾病（n=524，76.4%）（P=0.004，比值比1.5，95%置信区间1.1-1.9）。我们发现PTPN 22与HLA-DRB 1共有表位的存在或临床特征无关。我们证实了先前报道的PTPN 22与RF阳性RA的相关性，这与HLA-DRB 1基因型无关。
Objectives. To confirm the association of a functional single-nucleotide polymorphism (SNP), C1858T (rs2476601), in the PTPN22 gene of British Caucasian rheumatoid arthritis (RA) patients and to evaluate its influence on the RA phenotype.Methods. A total of 686 RA patients and 566 healthy volunteers, all of British Caucasian origin, were genotyped for C1858T polymorphism by PCR-restriction fragment length polymorphism assay. Data were analysed using SPSS software and the chi(2) test as applicable.Results. The PTPN22 1858T risk allele was more prevalent in the RA patients (13.9%) compared with the healthy controls (10.3%) (P=0.008, odds ratio 1.4, 95% confidence interval 1.09-1.79). The association of the T allele was restricted to those with rheumatoid factor (RF)-positive disease (n=524, 76.4%) (P=0.004, odds ratio 1.5, 95% confidence interval 1.1-1.9). We found no association between PTPN22 and the presence of the HLA-DRB1 shared epitope or clinical characteristics.Conclusions. We confirmed the previously reported association of PTPN22 with RF-positive RA, which was independent from the HLA-DRB1 genotype.