Association of the IL2RA/CD25 gene with juvenile idiopathic arthritis.
Association of the IL2RA/CD25 gene with juvenile idiopathic arthritis.
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DOI：
10.1002/art.24187
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发表时间：
2009-01
影响因子：
--
通讯作者：
Thomson, Wendy
中科院分区：
文献类型：
--
作者：
Hinks, Anne;Ke, Xiayi;Barton, Anne;Eyre, Steve;Bowes, John;Worthington, Jane;Thompson, Susan D.;Langefeld, Carl D.;Glass, David N.;Thomson, Wendy
IL2RA/CD25 是白细胞介素 2 受体 α 的基因，由于其在调节性 T 细胞的发育和功能中的作用以及该基因内的单核苷酸多态性 (SNP) 与 1 型糖尿病 (DM)、格雷夫斯病、类风湿性关节炎 (RA) 和多发性关节炎的关联，正在成为自身免疫性疾病的普遍易感基因。 硬化症（MS）。本研究的目的是确定 IL2RA/CD25 基因内的 SNP 是否与幼年特发性关节炎 (JIA) 相关。 IL2RA/CD25 基因内的三个 SNP 先前显示出与 RA、MS 或 1 型 DM 相关的证据，被选择用于英国 JIA 病例 (n = 654) 和对照 (n = 3,849) 的基因分型。 1 个 SNP (rs2104286) 的数据也可从北美 JIA 病例 (n = 747) 和对照 (n = 1,161) 中获得。使用 Plink 软件进行关联分析。计算优势比 (OR) 和 95% 置信区间 (95% CI)。 IL2RA/CD25 基因内的 SNP rs2104286 与英国 JIA 病例显着相关（等位基因的 OR 为 0.76 [95% CI 0.66–0.88]，趋势 P = 0.0002）。第二个 SNP (rs41295061) 也显示出与 JIA 相关的适度证据（OR 0.80 [95% CI 0.63–1.0]，P = 0.05）。与 rs2104286 的关联在北美 JIA 队列中得到了令人信服的复制（OR 0.84 [95% CI 0.65–0.99]，趋势 P = 0.05）。对 2 个队列的荟萃分析得出了与 JIA 相关的高度显着的证据（OR 0.76 [95% CI 0.62–0.88]，P = 4.9 × 10−5）。这些结果提供了强有力的证据，证明 IL2RA/CD25 基因代表 JIA 易感位点。现在需要使用遗传和功能方法进一步研究该基因。
IL2RA/CD25, the gene for interleukin-2 receptor α, is emerging as a general susceptibility gene for autoimmune diseases because of its role in the development and function of regulatory T cells and the association of single-nucleotide polymorphisms (SNPs) within this gene with type 1 diabetes mellitus (DM), Graves' disease, rheumatoid arthritis (RA), and multiple sclerosis (MS). The aim of this study was to determine whether SNPs within the IL2RA/CD25 gene are associated with juvenile idiopathic arthritis (JIA). Three SNPs within the IL2RA/CD25 gene, that previously showed evidence of an association with either RA, MS, or type 1 DM, were selected for genotyping in UK JIA cases (n = 654) and controls (n = 3,849). Data for 1 SNP (rs2104286) were also available from North American JIA cases (n = 747) and controls (n = 1,161). Association analyses were performed using Plink software. Odds ratios (ORs) and 95% confidence intervals (95% CIs) were calculated. SNP rs2104286 within the IL2RA/CD25 gene was significantly associated with UK JIA cases (OR for the allele 0.76 [95% CI 0.66–0.88], P for trend = 0.0002). A second SNP (rs41295061) also showed modest evidence for association with JIA (OR 0.80 [95% CI 0.63–1.0], P = 0.05). Association with rs2104286 was convincingly replicated in the North American JIA cohort (OR 0.84 [95% CI 0.65–0.99], P for trend = 0.05). Meta-analysis of the 2 cohorts yielded highly significant evidence of association with JIA (OR 0.76 [95% CI 0.62–0.88], P = 4.9 × 10−5). These results provide strong evidence that the IL2RA/CD25 gene represents a JIA susceptibility locus. Further investigation of the gene using both genetic and functional approaches is now required.
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DOI：
10.1084/jem.193.11.1303
发表时间：
2001-06-04
期刊：
The Journal of experimental medicine
影响因子：
--
作者：
Dieckmann D;Plottner H;Berchtold S;Berger T;Schuler G
通讯作者：
Schuler G
影响因子：
158.5
作者：
Plenge, Robert M.;Seielstad, Mark;Gregersen, Peter K.
通讯作者：
Gregersen, Peter K.
影响因子：
3.2
作者：
Brand, Oliver J.;Lowe, Christopher E.;Gough, Stephen C. L.
通讯作者：
Gough, Stephen C. L.
影响因子：
12.8
作者：
ENGELHARDT, B;DIAMANTSTEIN, T;WEKERLE, H
通讯作者：
WEKERLE, H
影响因子：
2.2
作者：
Thomasz, L.;Aran, M.;Krawiec, L.
通讯作者：
Krawiec, L.