Polymorphisms in the CTLA4 promoter sequence are associated with canine hypoadrenocorticism

Boag, A M and Short, A and Kennedy, L J and Syme, H and Graham, P A and Catchpole, B (2020) Polymorphisms in the CTLA4 promoter sequence are associated with canine hypoadrenocorticism. Canine Medicine and Genetics, 7 (2).

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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).

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