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    Ann Rheum Dis. 2010 Aug;69(8):1471-4. Epub 2009 Sep 3.

    A CLEC16A variant confers risk for juvenile idiopathic arthritis and anti-cyclic citrullinated peptide antibody negative rheumatoid arthritis.

    Skinningsrud B, Lie BA, Husebye ES, Kvien TK, Førre Ø, Flatø B, Stormyr A, Joner G, Njølstad PR, Egeland T, Undlien DE.

    Source

    Department of Medical Genetics, Oslo University Hospital, Ullevål, Kirkeveien 166, N-0407 Oslo, Norway. beate.skinningsrud@medisin.uio.no

    Abstract

    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.

    PMID:
    19734133
    [PubMed - indexed for MEDLINE]
    PMCID:
    PMC2938883
    Free PMC Article

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