03113: Investigation of Candidate Genetic Variants for Copper-associated Hepatopathy in the Dalmatian

Grant Status: Open

Grant Amount: $79,396
Andrew Mason, PhD; University of Alberta
February 1, 2023 - July 31, 2024

Sponsor(s): Dalmatian Club of America Foundation

Breed(s): Dalmatian
Research Program Area: Hepatic Disease
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Canine copper-associated hepatopathies (CAHs) are now being diagnosed at increasing frequency across North America. The Dalmatian breed is no exception with cases being regularly reported in recent decades. The balance between genetics and the environment is unclear. Increased levels of copper in commercial diets may exacerbate a fragile genetic predisposition. Other studies around the world suggest that even in breeds with an obvious genetic component, that strong genetic modifiers might reduce the impact of a strong disease-associated variant. Our previous AKCCHF-funded study indicates a very strong genetic component to CAH in the Dalmatian, with several lines affected and a shortlist of candidate genetic variants that require further investigation to support their credibility. We have observed some family-specific changes associated with copper processes and further work is needed to understand their significance. We propose to interrogate the regions around some candidate variants that do not reside in genes. In the next phase of our study, long-read sequencing may help us to link isolated variants to genes, and fill in sequence gaps for some dogs. This powerful technique enables continuous reads for a great distance along DNA, and will confirm and extend our findings, and bring us closer to an explaining CAH in the Dalmatian. Lifelong copper chelation and dietary modifications can provide relief, but early diagnoses and treatment are essential to avoid fatality. As in all breeds, CAH in the Dalmatian is complex and well-understood genetic test(s) will be a major step towards the eradication of liver copper disorders from the Dalmatian breed. We hope to continue to recruit additional Dalmatians to our study and thank all Dalmatian owners and breeders who have connected and contributed information and/or samples for our studies.


None at this time.

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