Genetic Epidemiology, Psychiatric Genetics, Asthma Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
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PMID
22208456
TITLE
PTPN22 polymorphisms may indicate a role for this gene in atopic dermatitis in West Highland white terriers.
ABSTRACT
BACKGROUND NlmCategory: 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 NlmCategory: RESULTS
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 NlmCategory: 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.
DATE PUBLISHED
2011
HISTORY
PUBSTATUS PUBSTATUSDATE
received 2011/10/14
accepted 2011/12/30
aheadofprint 2011/12/30
entrez 2012/01/03 06:00
pubmed 2012/01/03 06:00
medline 2012/01/03 06:01
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Roque JB Roque Joana Barros JB Centre for Companion Animal Health, School of Veterinary Science, The University of Queensland, St Lucia, Queensland, 4069, Australia. c.oleary@uq.edu.au.
O'Leary CA O'Leary Caroline A CA
Kyaw-Tanner M Kyaw-Tanner Myat M
Duffy DL Duffy David L DL
Gharahkhani P Gharahkhani Puya P
Vogelnest L Vogelnest Linda L
Mason K Mason Kenneth K
Shipstone M Shipstone Michael M
INVESTIGATORS
JOURNAL
VOLUME: 4
ISSUE:
TITLE: BMC research notes
ISOABBREVIATION: BMC Res Notes
YEAR: 2011
MONTH:
DAY:
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN:
ISSNTYPE:
MEDLINE JOURNAL
MEDLINETA: BMC Res Notes
COUNTRY: England
ISSNLINKING: 1756-0500
NLMUNIQUEID: 101462768
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
COMMENTS AND CORRECTIONS
GRANTS
GENERAL NOTE
KEYWORDS
MESH HEADINGS
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
OTHER ID's
OTHERID SOURCE
PMC3271996 NLM