Author:
Roque Joana Barros,O'Leary Caroline A,Kyaw-Tanner Myat,Duffy David L,Gharahkhani Puya,Vogelnest Linda,Mason Kenneth,Shipstone Michael
Abstract
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.
Publisher
Springer Science and Business Media LLC
Subject
General Biochemistry, Genetics and Molecular Biology,General Medicine
Reference24 articles.
1. Jaeger K, Linek M, Power HT, Bettenay SV, Zabel S, Rosychuk RAW, Mueller RS: Breed and site predispositions of dogs with atopic dermatitis: a comparison of five locations in three continents. Vet Dermatol. 2010, 21: 118-122.
2. Roque JB, O'Leary CA, Kyaw-Tanner M, Gharahkhani P, Latter M, Mason K, Shipstone M, Vogelnest L, Duffy DL: Atopic dermatitis in West Highland white terriers is associated with 1.3 Mb region on CFA 17. Immunogenetics.
3. Vang T, Miletic AV, Arimura Y, Tautz L, Rickert RC, Mustelin T: Protein tyrosine phosphatases in autoimmunity. Ann Rev Immunol. 2008, 26: 29-55. 10.1146/annurev.immunol.26.021607.090418.
4. Hill PB, Olivry T, (2001) The ACVD task force on canine atopic dermatitis (V): Biology and role of inflammatory cells in cutaneous allergic reactions. Vet Immunol Immunopathol. 2001, 81: 187-198. 10.1016/S0165-2427(01)00310-5.
5. Rieck M, Arechiga AF, Onengut-Gumuscu S: Genetic variation in PTPN22 corresponds to altered function of T and B lymphocytes. J Immunol. 2007, 179: 4704-4710.
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