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A CLEC16A variant confers risk for juvenile idiopathic arthritis and anti-cyclic citrullinated peptide antibody negative rheumatoid arthritis
  1. Beate Skinningsrud1,2,
  2. Benedicte A Lie3,
  3. Eystein S Husebye4,5,
  4. Tore K Kvien6,
  5. Øystein Førre7,
  6. Berit Flatø7,
  7. Alice Stormyr1,
  8. Geir Joner8,9,
  9. Pål R Njølstad10,11,
  10. Thore Egeland12,13,
  11. Dag E Undlien1,2
  1. 1Department of Medical Genetics, Oslo University Hospital, Ullevål, Oslo, Norway
  2. 2Institute of Medical Genetics, University of Oslo, Oslo, Norway
  3. 3Institute of Immunology, Oslo University Hospital, Rikshospitalet, Oslo, Norway
  4. 4Section of Endocrinology, Institute of Medicine, University of Bergen, Bergen, Norway
  5. 5Department of Medicine, Haukeland University Hospital, Bergen, Norway
  6. 6Department of Rheumatology, Diakonhjemmet Hospital, Oslo, Norway
  7. 7Department of Rheumatology, Oslo University Hospital, Rikshospitalet, Oslo, Norway
  8. 8Department of Paediatrics, Oslo University Hospital, Ullevål, Oslo, Norway
  9. 9Institute of Health Management and Health Economics, University of Oslo, Oslo, Norway
  10. 10Department of Clinical Medicine, University of Bergen, Bergen, Norway
  11. 11Department of Paediatrics, Haukeland University Hospital, Bergen, Norway
  12. 12Institute of Forensic Medicine, University of Oslo, Oslo, Norway
  13. 13Health, Care and Welfare, Oslo University College, Oslo, Norway
  1. Correspondence to Beate Skinningsrud, Department of Medical Genetics, Oslo University Hospital, Ullevål, Kirkeveien 166, N-0407 Oslo, Norway; beate.skinningsrud{at}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=1×10−5) and AD (p=2×10−4). The RA association was confined to the anti-cyclic citrullinated peptide antibody (anti-CCP) negative subgroup (p=2×10−4).

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.

This paper is freely available online under the BMJ Journals unlocked scheme, see http://ard.bmj.com/info/unlocked.dtl

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Footnotes

  • Funding This research was supported by grants from EU FP7, Grant number 201167, Euradrenal and the South-Eastern Regional Health Authorities.

  • Competing interests J WJ Bijlsma was the handling editor for this manuscript.

  • Ethics approval This study was conducted with the approval of the Regional Ethical Committees of Western and South Eastern Norway and the Data inspectorate of Norway.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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