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Polymorphisms in the CTLA4 promoter sequence are associated with canine hypoadrenocorticism
Alisdair M Boag1,2, Andrea Short3, Lorna J Kennedy3
1Pathobiology and Population Sciences, The Royal Veterinary College, University of London, London, UK.
Canine Medicine and Genetics
|August 25, 2020
Summary
Genetic variations in the CTLA4 gene promoter are linked to canine hypoadrenocorticism, a complex autoimmune disease. This finding supports the role of CTLA4 in the immune-mediated cause of the condition.
Area of Science:
- Veterinary Genetics
- Immunology
- Endocrinology
Background:
- Canine hypoadrenocorticism shares similarities with human Addison's disease.
- Genetic factors are suspected due to breed predispositions.
- CTLA4, a T cell regulator, is a potential susceptibility gene.
Purpose of the Study:
- To investigate the association of CTLA4 promoter polymorphisms with canine hypoadrenocorticism.
- Focused on cocker spaniels, springer spaniels, and West Highland white terriers.
Main Methods:
- Case:control association study design.
- PCR and sequence-based typing to analyze CTLA4 promoter polymorphisms.
- Examined single nucleotide polymorphisms (SNPs) and haplotypes.
Main Results:
- Significant associations found between three CTLA4 promoter haplotypes and hypoadrenocorticism in cocker spaniels (p=0.003).
- Several SNPs in the CTLA4 promoter were associated with the disease in cocker spaniels and springer spaniels.
- Identified polymorphisms within predicted transcription factor binding sites (NFAT, SP1).
Conclusions:
- CTLA4 promoter polymorphisms are associated with canine hypoadrenocorticism.
- This supports an immune-mediated etiology for the disease.
- Highlights CTLA4's role in the complex genetic basis of canine hypoadrenocorticism.
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