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Open Access Short Report

PTPN22 polymorphisms may indicate a role for this gene in atopic dermatitis in West Highland white terriers

Joana Barros Roque1, Caroline A O'Leary2*, Myat Kyaw-Tanner1, David L Duffy3, Puya Gharahkhani1, Linda Vogelnest4, Kenneth Mason5 and Michael Shipstone6

Author Affiliations

1 School of Veterinary Science, The University of Queensland, Gatton, Queensland, 4343, Australia

2 Centre for Companion Animal Health, School of Veterinary Science, The University of Queensland, St Lucia, Queensland, 4069, Australia

3 Genetic Epidemiology Laboratory, Queensland Institute of Medical Research, Herston, Queensland, 4029, Australia

4 The University of Sydney, University Veterinary Teaching Hospital, Camden, New South Wales, 2570, Australia

5 Dermcare, Springwood, Queensland, 4127, Australia

6 Dermatology for Animals, Stafford Heights, Queensland, 4053, Australia

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BMC Research Notes 2011, 4:571  doi:10.1186/1756-0500-4-571

Published: 30 December 2011

Abstract

Background

Canine atopic dermatitis is an allergic inflammatory skin disease common in West Highland white terriers. A genome-wide association study for atopic dermatitis in a population of West Highland white terriers identified a 1.3 Mb area of association on CFA17 containing canine protein tyrosine phosphatase non-receptor type 22 (lymphoid) PTPN22. This gene is a potential candidate gene for canine atopic dermatitis as it encodes a lymphoid-specific signalling mediator that regulates T-cell and possibly B-cell activity.

Findings

Sequencing of PTPN22 in three atopic and three non-atopic West Highland white terriers identified 18 polymorphisms, including five genetic variants with a bioinformatically predicted functional effect. An intronic polymorphic repeat sequence variant was excluded as the cause of the genome-wide association study peak signal, by large-scale genotyping in 72 West Highland white terriers (gene-dropping simulation method, P = 0.01).

Conclusions

This study identified 18 genetic variants in PTPN22 that might be associated with atopic dermatitis in West Highland white terriers. This preliminary data may direct further study on the role of PTPN22 in this disease. Large scale genotyping and complementary genomic and proteomic assays would be required to assess this possibility.