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• W3021149103 abstract "Canine hypoadrenocorticism is an immune-mediated endocrinopathy that shares both clinical and pathophysiological similarities with Addison's disease in humans. Several dog breeds are overrepresented in the disease population, suggesting that a genetic component is involved, although this is likely to be polygenic. Previous research has implicated CTLA4 as a potential susceptibility gene. CTLA4 is an important regulator of T cell function and polymorphisms/mutations in CTLA4 have been associated with a number of autoimmune phenotypes in both humans and rodent models of autoimmunity. The aim of the current study was to undertake a case:control association study of CTLA4 promotor polymorphisms in three dog breeds, cocker spaniels, springer spaniels and West Highland white terriers (WHWT).Polymorphisms in the CTLA4 promoter were determined by PCR and sequence-based typing. There were significant associations with three promoter haplotypes in cocker spaniels (p = 0.003). A series of SNPs were also associated with hypoadrenocorticism in cocker spaniels and springer spaniels, including polymorphisms in predicted NFAT and SP1 transcription factor binding sites.This study provides further evidence that CTLA4 promotor polymorphisms are associated with this complex genetic disease and supports an immune mediated aetiopathogenesis of canine hypoadrenocorticism." @default.
• W3021149103 created "2020-05-13" @default.
• W3021149103 creator A5039905808 @default.
• W3021149103 creator A5047069053 @default.
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• W3021149103 creator A5053986361 @default.
• W3021149103 creator A5068793181 @default.
• W3021149103 creator A5091278326 @default.
• W3021149103 date "2020-03-04" @default.
• W3021149103 modified "2023-10-08" @default.
• W3021149103 title "Polymorphisms in the CTLA4 promoter sequence are associated with canine hypoadrenocorticism" @default.
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• W3021149103 doi "https://doi.org/10.1186/s40575-020-0081-4" @default.
• W3021149103 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7371821" @default.
• W3021149103 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32835228" @default.
• W3021149103 hasPublicationYear "2020" @default.
• W3021149103 type Work @default.
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• W3021149103 hasAuthorship W3021149103A5039905808 @default.
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• W3021149103 hasAuthorship W3021149103A5068793181 @default.

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