Addison’s
Disease
Abstract from the CHF website
2. National Human Genome Research Institute (NIH) (Government)
Active Grant No: 589B:
Identifying Genes Regulating Addison's Disease in the Portuguese
Water Dog (PWD)
Disease(s): Autoimmune Disease
Researcher(s): Elaine Ostrander, PhD
Breed(s): Portuguese Water Dog
University of Utah
(University)
Active Grant No: 589A:
Identifying Genes Regulating Addison's Disease in the Portuguese
Water Dog (PWD)
Disease(s): Autoimmune Disease
Sponsor(s):
BEACON for Health, Leonberger Health Foundation,
Portuguese Water Dog Club of America, Inc., Portuguese Water Dog
Foundation, Versatility in Poodles, Inc.
Researcher(s): K. Gordon Lark, PhD
Breed(s): Portuguese Water Dog
Abstract:
Addison’s disease, or primary adrenocortical insufficiency,
is characterized by destruction of the adrenal cortex, resulting
in the inability to produce cortisone when stimulated with the
hormone ACTH. In Portuguese Water Dogs (PWDs), this disease
occurs with a frequency of 1-2 percent, and is a heritable
autoimmune disease of low penetrance, caused by several
interacting genes. Using both new and existing data, we propose
to identify regions of the PWD genome that contain genes
regulating the frequency of Addison¿s disease. Within those
large regions we propose to identify the specific DNA sequence
variants that are associated with Addison¿s. To date we have
obtained DNA from about 90 Addisonian PWDs, as well as a number
of unaffected PWDs, for which no family history of Addison's is
reported. We have already identified two genomic regions, on
canine chromosomes 12 and 37, that appear to be associated with
the disease. To identify candidate genes, we will make
selections using the newly available canine genome sequence, as
well as the more detailed human genome sequence. Once affected
gene disease frequency is identified, our long term hope is that
prognostic tests can be developed that will aid breeders in
selecting the most genetically compatible dogs for future
breeding.
No Update Report for Sponsors available at this time 8/22/0
1. University of California, Davis (University)
Completed Grant No: 225:
Establishing a Genetic Linkage Between Addison's Disease and DNA
Markers
Disease(s): Autoimmune Disease
Sponsor(s):
BEACON for Health, Bearded Collie Club of America, Great
Dane Club of America, Poodle Club of America Foundation,
Portuguese Water Dog Club of America, Inc., Portuguese Water Dog
Foundation, Versatility in Poodles, Inc., Westie Foundation of
America, Inc.
Researcher(s): Anita M. Oberbauer, PhD
Breed(s):
Bearded Collie, Great Dane,
Leonberger, Miniature Poodle,
Portuguese Water Dog, Standard Poodle, West Highland White
Terrier
Abstract:
Addison's disease is a late onset disorder caused by
deterioration of the adrenal gland cortex. Although Addison's
disease occurs in the general canine population, some breeds
show a greater prevalence as noted by owners and breeders:
Bearded Collies, Standard Poodles, Leonbergers, Portuguese Water
Dogs, and West Highland White Terriers. We have demonstrated
that for Standard Poodles and Bearded Collies, Addison's disease
is highly heritable. Statistical evaluation of the dogs'
pedigrees suggests a single locus of large effect significantly
influences the expression of Addison's in the Standard Poodle
and that this locus acts as an autosomal recessive. Similar
findings characterize Addison's for the Bearded Collie although
the level of significance is less robust. The specific
objectives of this grant are to expand our pedigree, phenotypic,
and DNA databases for all possible Bearded Collies, Standard
Poodles, Leonbergers, Portguese Water Dogs and West Highland
White Terriers as related to Addison's disease and to continue
our genome scan of the DNA to identify a genetic marker linked
to the single locus suggested by the pedigree analyses.
