Peer-reviewed veterinary case report
Genes linked to Addison's disease in Standard poodles and Portuguese
By Short, Andrea D et al.·Published in The Journal of heredity·2013·The University of Manchester, United Kingdom·View original on PubMed →
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Original publication title: A candidate gene analysis of canine hypoadrenocorticism in 3 dog breeds.
- Species:
- dog
Plain-English summary
A study looked at canine hypoadrenocorticism, a rare condition where dogs' adrenal glands don't produce enough hormones, affecting breeds like Standard Poodles and Portuguese Water Dogs more than others. Researchers analyzed genetic information from affected and unaffected dogs in three breeds: Labrador Retrievers, Cocker Spaniels, and Springer Spaniels. They found specific genetic markers linked to the disease, suggesting that it may have an immune-related cause. Understanding these genetic factors could help in both dog and human cases of adrenal insufficiency.
People also search for: dog adrenal insufficiency symptoms · Standard Poodle Addison's disease · Cocker Spaniel immune problems
Abstract
Canine hypoadrenocorticism is believed to be an immune-related condition. It is rare in the overall dog population but shows a breed-related predisposition with Standard poodles and Portuguese water dogs having a greater prevalence of the condition. It shares many similarities with human primary adrenal insufficiency and is believed to be a naturally occurring, spontaneous model for the human condition. Short haplotype blocks and low levels of linkage disequilibrium in the human genome mean that the identification of genetic contributors to the condition requires large sample numbers. Pedigree dogs have high linkage disequilibrium and long haplotypes within a breed, increasing the potential of identifying novel genes that contribute to canine genetic disease. We investigated 222 SNPs from 42 genes that have been associated or may be implicated in human Addison's disease. We conducted case-control analyses in 3 pedigree dog breeds (Labrador retriever: affected n = 30, unaffected = 76; Cocker Spaniel: affected n = 19, unaffected = 53; Springer spaniel: affected n = 26, unaffected = 46) and identified 8 associated alleles in genes COL4A4, OSBPL9, CTLA4, PTPN22, and STXBP5 in 3 pedigree breeds. Association with immune response genes PTPN22 and CTLA4 in certain breeds suggests an underlying immunopathogenesis of the disease. These results suggest that canine hypoadrenocorticism could be a useful model for studying comparative genetics relevant to human Addison's disease.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/23997205/