...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Arthritis & Rheumatism >The susceptibility loci juvenile idiopathic arthritis shares with other autoimmune diseases extend to PTPN2, COG6, and ANGPT1
【24h】

The susceptibility loci juvenile idiopathic arthritis shares with other autoimmune diseases extend to PTPN2, COG6, and ANGPT1

机译：与其他自身免疫性疾病的易感性基因位点幼年特发性关节炎所占比例扩展到PTPN2，COG6和ANGPT1

获取原文
获取原文并翻译 | 示例
   

获取外文期刊封面封底 >>

       
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

ObjectiveTo test for associations between non–major histocompatibility complex susceptibility loci previously reported in autoimmune diseases and juvenile idiopathic arthritis (JIA).MethodsPublished autoimmune disease genome-wide association studies were reviewed, and 519 single-nucleotide polymorphisms (SNPs) were selected for association testing. The initial cohort included 809 JIA cases and 3,535 controls of non-Hispanic, European ancestry. Of the SNPs, 257 were successfully genotyped, while 168 were imputed with quality. Based on findings in the initial cohort, replication was sought for 21 SNPs in a second cohort of 1,015 JIA cases and 1,569 controls collected in the US and Germany. For the initial cohort, tests for association were adjusted for potential confounding effects of population structure by including principal components derived from a genome-wide association study as covariates in logistic regression models. Odds ratios (ORs) and 95% confidence intervals were calculated.ResultsTesting for association of previously reported autoimmune disease genetic associations in the initial cohort suggested associations with JIA in 13 distinct loci. Of these, 7 were validated in the replication cohort. Meta-analysis results for the replicating loci included PTPN22 (rs6679677 [OR 1.58, P = 1.98 × 10−12], rs2476601 [OR 1.64, P = 1.90 × 10−13], and rs2488457 [OR 1.32, P = 6.74 × 10−8]), PTPN2 (rs1893217 [OR = 1.33, P = 1.60 × 10−9] and rs7234029 [OR 1.35, P = 1.86 × 10−10]), ADAD1-IL2-IL21 (rs17388568 [OR 1.24, P = 1.13 × 10−6] and rs13143866 [OR 0.83, P = 1.95 × 10−4]), STAT4 (rs3821236 [OR = 1.27, P = 2.36 × 10−6] and rs7574865 [OR = 1.31, P = 2.21 × 10−6]), C12orf30 (rs17696736 [OR = 1.19, P = 2.59 × 10−5]), COG6 (rs7993214 [OR = 0.76, P = 1.10 × 10−5]), and ANGPT1 (rs1010824 [OR = 0.79, P = 2.91 × 10−4]). These polymorphisms have been reported in diseases such as rheumatoid arthritis, type 1 diabetes mellitus, Crohn's disease, and multiple sclerosis.ConclusionGeneral susceptibility loci for autoimmunity are shared across diseases, including JIA, suggesting the potential for common therapeutic targets and mechanisms.
机译：目的检验以前在自身免疫性疾病中报告的非主要组织相容性复杂易感基因座与青少年特发性关节炎（JIA）之间的关联性。方法对已发表的自身免疫性疾病全基因组关联性研究进行综述，并选择519个单核苷酸多态性（SNP）进行关联性测试。最初的队列包括809例JIA病例和3,535例非西班牙裔欧洲血统的对照。在SNP中，成功地进行了基因分型的257个，而高质量的168个被估计。根据最初队列的研究结果，在美国和德国收集的1,015例JIA病例和1,569例对照的第二个队列中寻求21种SNP的复制。对于最初的队列，通过将来源于全基因组关联研究的主要成分作为协变量包括在逻辑回归模型中，针对群体结构的潜在混杂效应调整了关联测试。计算比值比（OR）和95％置信区间。结果在最初队列中测试先前报道的自身免疫性疾病遗传关联的关联性提示在13个不同基因座中与JIA关联。其中有7个在复制队列中得到验证。复制基因座的荟萃分析结果包括PTPN22（rs6679677 [OR 1.58，P = 1.98×10 −12 ]，rs2476601 [OR 1.64，P = 1.90×10 −13 ]和rs2488457 [OR 1.32，P = 6.74×10 −8 ]），PTPN2（rs1893217 [OR = 1.33，P = 1.60×10 −9 ]]和rs7234029 [OR 1.35，P = 1.86×10 −10 ]），ADAD1-IL2-IL21（rs17388568 [OR 1.24，P = 1.13×10 −6 ]和rs13143866 [OR 0.83，P = 1.95×10 -4 ]），STAT4（rs3821236 [OR = 1.27，P = 2.36×10 -6 ]和rs7574865 [OR = 1.31 ，P = 2.21×10 −6 ]），C12orf30（rs17696736 [OR = 1.19，P = 2.59×10 −5 ]），COG6（rs7993214 [OR = 0.76 ，P = 1.10×10 -5 ]）和ANGPT1（rs1010824 [OR = 0.79，P = 2.91×10 -4 ]）。在类风湿性关节炎，1型糖尿病，克罗恩病和多发性硬化症等疾病中已报道了这些多态性。结论自身免疫的一般易感基因位点在包括JIA在内的各种疾病中共有，表明潜在的共同治疗靶点和机制。

著录项

相似文献

  • 外文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号