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

Bowes, John, Loehr, Sabine, Budu-Aggrey, Ashley, Uebe, Steffen, Bruce, Ian N., Feletar, Marie, Marzo-Ortega, Helena, Helliwell, Philip, Ryan, Anthony W., Kane, David, Korendowych, Eleanor, Alenius, Gerd-Marie, Giardina, Emiliano, Packham, Jonathan, McManus, Ross, FitzGerald, Oliver, Brown, Matthew A., Behrens, Frank, Burkhardt, Harald, McHugh, Neil, Huffmeier, Ulrike, Ho, Pauline, Reis, Andre and Barton, Anne (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: 1882-1885. doi:10.1136/annrheumdis-2014-207187


Author Bowes, John
Loehr, Sabine
Budu-Aggrey, Ashley
Uebe, Steffen
Bruce, Ian N.
Feletar, Marie
Marzo-Ortega, Helena
Helliwell, Philip
Ryan, Anthony W.
Kane, David
Korendowych, Eleanor
Alenius, Gerd-Marie
Giardina, Emiliano
Packham, Jonathan
McManus, Ross
FitzGerald, Oliver
Brown, Matthew A.
Behrens, Frank
Burkhardt, Harald
McHugh, Neil
Huffmeier, Ulrike
Ho, Pauline
Reis, Andre
Barton, Anne
Title PTPN22 is associated with susceptibility to psoriatic arthritis but not psoriasis: evidence for a further PsA-specific risk locus
Journal name Annals of the Rheumatic Diseases   Check publisher's open access policy
ISSN 1468-2060
0003-4967
Publication date 2015
Year available 2015
Sub-type Article (original research)
DOI 10.1136/annrheumdis-2014-207187
Volume 74
Issue 10
Start page 1882
End page 1885
Total pages 4
Place of publication London, United Kingdom
Publisher BMJ Group
Collection year 2016
Language eng
Formatted abstract
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.
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2016 Collection
UQ Diamantina Institute Publications
 
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