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PTPN22 is associated with susceptibility to psoriatic arthritis but not psoriasis: evidence for a further PsA-specific risk locus
  1. John Bowes1,
  2. Sabine Loehr2,
  3. Ashley Budu-Aggrey1,3,
  4. Steffen Uebe2,
  5. Ian N Bruce1,3,4,
  6. Marie Feletar5,
  7. Helena Marzo-Ortega6,
  8. Philip Helliwell6,
  9. Anthony W Ryan7,
  10. David Kane8,
  11. Eleanor Korendowych9,
  12. Gerd-Marie Alenius10,
  13. Emiliano Giardina11,
  14. Jonathan Packham12,
  15. Ross McManus7,
  16. Oliver FitzGerald13,
  17. Matthew A Brown14,
  18. Frank Behrens15,
  19. Harald Burkhardt15,
  20. Neil McHugh9,
  21. Ulrike Huffmeier2,
  22. Pauline Ho1,4,
  23. Andre Reis2,
  24. Anne Barton1,3,4
  1. 1Arthritis Research UK Centre for Epidemiology, Centre for Musculoskeletal Research, Institute for Inflammation and Repair, Manchester Academic Health Science Centre, The University of Manchester, Manchester, UK
  2. 2Institute of Human Genetics, University of Erlangen-Nuremberg, Erlangen, Germany
  3. 3NIHR Manchester Musculoskeletal Biomedical Research Unit, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK
  4. 4The Kellgren Centre for Rheumatology, Central Manchester Foundation Trust, NIHR Manchester Biomedical Research Centre, Manchester, UK
  5. 5Monash University, Melbourne, Victoria, Australia
  6. 6NIHR-Leeds Musculoskeletal Biomedical Research Unit, Leeds Institute of Molecular Medicine, University of Leeds, Leeds, UK
  7. 7Department of Clinical Medicine, Institute of Molecular Medicine, Trinity College Dublin, Dublin, Ireland
  8. 8Adelaide and Meath Hospital and Trinity College Dublin, Dublin, Ireland
  9. 9Royal National Hospital for Rheumatic Diseases and Department Pharmacy and Pharmacology, University of Bath, Bath, UK
  10. 10Department of Public Health and Clinical Medicine, Rheumatology, University Hospital, Umeå, Sweden
  11. 11Department of Biopathology, Centre of Excellence for Genomic Risk Assessment in Multifactorial and Complex Diseases, School of Medicine, University of Rome ‘Tor Vergata’ and Fondazione PTV ‘Policlinico Tor Vergata’, Rome, Italy
  12. 12Rheumatology Department, Haywood Hospital, Health Services Research Unit, Institute of Science and Technology in Medicine, Keele University
  13. 13Department of Rheumatology, St. Vincent's University Hospital, UCD School of Medicine and Medical Sciences and Conway Institute of Biomolecular and Biomedical Research, University College Dublin, Dublin, Ireland
  14. 14The University of Queensland Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital, Woolloongabba, Brisbane, Queensland, Australia
  15. 15Division of Rheumatology and Fraunhofer IME-Project-Group Translational Medicine and Pharmacology, Goethe University, Frankfurt, Germany
  1. Correpondence to Professor Anne Barton, Arthritis Research UK Centre for Genetics and Genomics, The University of Manchester, Manchester M13 9PT, UK; anne.barton{at}


Objectives Psoriatic arthritis (PsA) is a chronic inflammatory arthritis associated with psoriasis; it has a higher estimated genetic component than psoriasis alone, however most genetic susceptibility loci identified for PsA to date are also shared with psoriasis. Here we attempt to validate novel single nucleotide polymorphisms selected from our recent PsA Immunochip study and determine specificity to PsA.

Methods A total of 15 single nucleotide polymorphisms were selected (PImmunochip <1×10−4) for validation genotyping in 1177 cases and 2155 controls using TaqMan. Meta-analysis of Immunochip and validation data sets consisted of 3139 PsA cases and 11 078 controls. Novel PsA susceptibility loci were compared with data from two large psoriasis studies (WTCCC2 and Immunochip) to determine PsA specificity.

Results We found genome-wide significant association to rs2476601, mapping to PTPN22 (p=1.49×10−9, OR=1.32), but no evidence for association in the psoriasis cohort (p=0.34) and the effect estimates were significantly different between PsA and psoriasis (p=3.2×10−4). Additionally, we found genome-wide significant association to the previously reported psoriasis risk loci; NOS2 (rs4795067, p=5.27×10−9).

Conclusions For the first time, we report genome-wide significant association of PTPN22 (rs2476601) to PsA susceptibility, but no evidence for association to psoriasis.

This is an Open Access article distributed in accordance with the terms of the Creative Commons Attribution (CC BY 4.0) license, which permits others to distribute, remix, adapt and build upon this work, for commercial use, provided the original work is properly cited. See:

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