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首页> 外文期刊>Annals of the Rheumatic Diseases: A Journal of Clinical Rheumatology and Connective Tissue Research >A CLEC16A variant confers risk for juvenile idiopathic arthritis and anti-cyclic citrullinated peptide antibody negative rheumatoid arthritis.
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A CLEC16A variant confers risk for juvenile idiopathic arthritis and anti-cyclic citrullinated peptide antibody negative rheumatoid arthritis.

机译：CLEC16A变体可导致青少年特发性关节炎和抗环瓜氨酸肽抗体类风湿关节炎的风险。

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OBJECTIVE: Variants in CLEC16A have conferred susceptibility to autoimmune diseases in genome-wide association studies. The present work aimed to investigate the locus' involvements in juvenile idiopathic arthritis (JIA) and further explore the association with rheumatoid arthritis (RA), type 1 diabetes (T1D) and Addison's disease (AD) in the Norwegian population. METHODS: Three single nucleotide polymorphisms (SNPs) were genotyped in patients with RA (n=809), JIA (n=509), T1D (n=1211) and AD (n=414) and in healthy controls (n=2149). RESULTS: All diseases were associated with CLEC16A, but with different SNPs. The intron 22 SNP, rs6498169, was associated with RA (p=0.006) and JIA (p=0.016) and the intron 19 SNPs, rs12708716/rs12917716, with T1D (p=1x10-5) and AD (p=2x10-4). The RA association was confined to the anti-cyclic citrullinated peptide antibody (anti-CCP) negative subgroup (p=2x10-4). CONCLUSION: This is the first report of a CLEC16A association with JIA and a split of the RA association according to anti-CCP status. Different causative variants underlie the rheumatic versus the organ specific diseases.
机译：目的：CLEC16A的变异在全基因组关联研究中赋予了自身免疫性疾病易感性。目前的工作旨在调查该场所在青少年特发性关节炎（JIA）中的参与程度，并进一步探讨挪威人群中类风湿性关节炎（RA），1型糖尿病（T1D）和艾迪生氏病（AD）的相关性。方法：在RA（n = 809），JIA（n = 509），T1D（n = 1211）和AD（n = 414）以及健康对照（n = 2149）患者中对三种单核苷酸多态性（SNP）进行基因分型。 。结果：所有疾病均与CLEC16A有关，但具有不同的SNP。内含子22 SNP rs6498169与RA（p = 0.006）和JIA（p = 0.016）以及内含子19 SNP rs12708716 / rs12917716与T1D（p = 1x10-5）和AD（p = 2x10-4）相关）。 RA关联仅限于抗环瓜氨酸肽抗体（抗CCP）阴性亚组（p = 2x10-4）。结论：这是CLEC16A与JIA的关联的首次报道，并且根据抗CCP状态对RA关联进行了拆分。风湿病与器官特定疾病是不同的致病变异。

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