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

Roque, Joana Barros, O'Leary, Caroline A., Kyaw-Tanner, Myat, Duffy, David L., Gharahkhani, Puya, Vogelnest, Linda, Mason, Kenneth and Shipstone, Michael (2011) PTPN22 polymorphisms may indicate a role for this gene in atopic dermatitis in West Highland white terriers. BMC Research Notes, 4 571.1-571.6. doi:10.1186/1756-0500-4-571


Author Roque, Joana Barros
O'Leary, Caroline A.
Kyaw-Tanner, Myat
Duffy, David L.
Gharahkhani, Puya
Vogelnest, Linda
Mason, Kenneth
Shipstone, Michael
Title PTPN22 polymorphisms may indicate a role for this gene in atopic dermatitis in West Highland white terriers
Journal name BMC Research Notes   Check publisher's open access policy
ISSN 1756-0500
Publication date 2011-12-30
Sub-type Article (original research)
DOI 10.1186/1756-0500-4-571
Open Access Status DOI
Volume 4
Start page 571.1
End page 571.6
Total pages 6
Place of publication London, United Kingdom
Publisher BioMed Central
Collection year 2012
Language eng
Formatted 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. 
Q-Index Code CX
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Non HERDC
School of Veterinary Science Publications
 
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Created: Wed, 22 Feb 2012, 09:55:49 EST by Annette Winter on behalf of School of Veterinary Science