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Abstract

BackgroundAddison's disease, also known as hypoadrenocorticism, has been reported in many individual dogs, although some breeds exhibit a greater incidence than the population as a whole. Addison's is presumed to be an autoimmune mediated hereditary defect but the mode of inheritance remains unclear. In particular, the heritability and mode of inheritance have not been defined for the Portuguese Water Dog although Addison's is known to be prevalent in the breed.ResultsThe analyses present clear evidence that establishes Addison's disease as an inherited disorder in the Portuguese Water Dog with an estimate of heritability of 0.49 (± 0.16); there were no differences in risk for disease across sexes (p > 0.49). Further, the complex segregation analysis provides suggestive evidence that Addison's disease in the Portuguese Water Dog is inherited under the control of a single, autosomal recessive locus.ConclusionThe high heritability and mode of inheritance of Addison's disease in the Portuguese Water Dog should enable the detection of segregating markers in a genome-wide scan and the identification of a locus linked to Addison's. Though the confirmation of Addison's disease as an autosomal recessive disorder must wait until the gene is identified, breeders of these dogs may wish to keep the present findings in mind as they plan their breeding programs to select against producing affected dogs.

Autoantibodies against Cytochrome P450 Side-Chain Cleavage Enzyme in Dogs (Canis lupus familiaris) Affected with Hypoadrenocorticism (Addison’s Disease)

“…Crossbreed dogs were the most commonly represented in the study population, with West Highland white terriers, poodles and springer spaniels also highly represented. Some breeds with known genetic heritability [ 4 , 69 ] were not particularly represented, including the Nova Scotia duck tolling retriever ( n = 0) and Portuguese water dog ( n = 2), probably reflective of breed preferences in the UK. Of the other two breeds with a known genetic heritability, only one of 11 standard poodles was P450scc antibody positive and none of the five bearded collies assessed were autoantibody positive.…”

DLA class II risk haplotypes for autoimmune diseases in the bearded collie offer insight to autoimmunity signatures across dog breeds

“…The presence of autoantibodies against adrenal antigens detected in both human [8, 9] and canine patients [2] with naturally occurring AD provide further evidence of the immune-mediated etiopathogenesis of AD. AD has been reported in many purebred and mixed breed dogs (OMIA 000519–9615) [1, 10, 11] with disease prevalence ranging from 0.06 to 0.4% in the overall dog population [12–15]. However, within certain breeds, prevalence of AD can be as high as 9% [7, 10, 16, 17].…”

“…AD has been reported in many purebred and mixed breed dogs (OMIA 000519–9615) [1, 10, 11] with disease prevalence ranging from 0.06 to 0.4% in the overall dog population [12–15]. However, within certain breeds, prevalence of AD can be as high as 9% [7, 10, 16, 17]. Reported breeds at increased risk for developing AD include bearded collies, Portuguese water dogs (PWD), standard poodles, West Highland white terriers (WHWT), Leonbergers, Wheaten terriers and Nova Scotia duck tolling retrievers [1, 7, 10, 14, 16–20].…”

Evaluation of the genetic basis of primary hypoadrenocorticism in Standard Poodles using SNP array genotyping and whole-genome sequencing

“…Pedigree studies have estimated a relatively high heritability in these breeds, ranging from 0.49 in PWDs to 0.98 in NSDTRs (Famula et al 2003; Oberbauer et al 2006; Hughes et al 2007). Attempts to identify specific polymorphisms in dogs with AD have recently been reviewed (Boag and Catchpole 2014).…”