PTPN22 is associated with susceptibility to psoriatic arthritis but not psoriasis: evidence for a further PsA-specific risk locus

Bowes J, Loehr S, Budu-Aggrey A, Uebe S, Bruce IN, Feletar M, Marzo-Ortega H, Helliwell P, Ryan AW, Kane D, Korendowych E, Alenius GM, Giardina E, Packham J, Mcmanus R, Fitzgerald O, Brown MA, Behrens F, Burkhardt H, Mchugh N, Hüffmeier U, Ho P, Reis A, Barton A (2015)

Publication Type: Journal article

Publication year: 2015

Journal

Annals of the Rheumatic Diseases BMJ Publishing Group

Book Volume: 74

Pages Range: 1882-5

Journal Issue: 10

DOI: 10.1136/annrheumdis-2014-207187

Abstract

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

Authors with CRIS profile

Steffen Uebe Institute of Human Genetics Ulrike Hüffmeier Lehrstuhl für Humangenetik André Wiesmann da Silva Reis Lehrstuhl für Humangenetik

Involved external institutions

University of Manchester GB United Kingdom (GB) Monash University AU Australia (AU) University of Leeds GB United Kingdom (GB) Trinity College Dublin IE Ireland (IE) Adelaide and Meath Hospital IE Ireland (IE) University of Bath GB United Kingdom (GB) University Hospital of Umeå / Norrlands universitetssjukhus (NUS) SE Sweden (SE) Università degli Studi di Roma 'Tor Vergata' IT Italy (IT) University of Keele GB United Kingdom (GB) University College Dublin (UCD) IE Ireland (IE) University of Queensland AU Australia (AU) Goethe-Universität Frankfurt am Main DE Germany (DE)

How to cite

APA:

Bowes, J., Loehr, S., Budu-Aggrey, A., Uebe, S., Bruce, I.N., Feletar, M.,... Barton, A. (2015). PTPN22 is associated with susceptibility to psoriatic arthritis but not psoriasis: evidence for a further PsA-specific risk locus. Annals of the Rheumatic Diseases, 74(10), 1882-5. https://doi.org/10.1136/annrheumdis-2014-207187

MLA:

Bowes, John, et al. "PTPN22 is associated with susceptibility to psoriatic arthritis but not psoriasis: evidence for a further PsA-specific risk locus." Annals of the Rheumatic Diseases 74.10 (2015): 1882-5.

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