02521-MOU: Identification of Genetic Markers for Familial Subvalvular Aortic Stenosis in Golden Retrievers

Grant Status: Closed

Grant Amount: $51,880
Joshua A Stern, DVM, PhD; University of California, Davis
February 1, 2018 - July 31, 2020

Sponsor(s): Golden Retriever Foundation

Breed(s): Golden Retriever
Research Program Area: Cardiology
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Subvalvular Aortic Stenosis (SAS) is a heart defect characterized by a fibrous ridge located below the aortic valve. Affected dogs are at risk of developing heart valve infections, congestive heart failure or sudden death. Severely affected dogs have an average lifespan of 19 months. SAS is an inherited heart problem reported in Golden Retrievers. Studying this disease in Golden Retrievers has the potential to identify causative genetic mutations and develop a reliable genetic test for this condition. Ultimately, the identification of a mutation would aid breeders in making informed decisions to reduce the prevalence of this condition. The investigators will study the pattern of inheritance and conduct a genome wide association study (GWAS). Once a chromosomal region of interest is identified, whole genome sequencing (WGS) will be employed to identify variants associated with SAS. The top variants will then be studies using Sequenom analysis to prioritize variant pursuit.

Funding for the research is provided through the collaborative efforts and generosity of the Golden Retriever Foundation. The AKC Canine Health Foundation supports the funding of this effort and will oversee grant administration and scientific progress. 


Ontiveros, E. S., & Stern, J. A. (2021). Genetics of canine subvalvular aortic stenosis (SAS). Canine Medicine and Genetics, 8(1), 4. https://doi.org/10.1186/s40575-021-00103-4

Ontiveros, E. S., Fousse, S. L., Crofton, A. E., Hodge, T. E., Gunther-Harrington, C. T., Visser, L. C., & Stern, J. A. (2019). Congenital Cardiac Outflow Tract Abnormalities in Dogs: Prevalence and Pattern of Inheritance From 2008 to 2017. Frontiers in Veterinary Science, 6. https://doi.org/10.3389/fvets.2019.00052

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