02520-MOU: Identification of Genetic Markers for Familial Subvalvular Aortic Stenosis in Rottweilers
Grant Status: Closed
Abstract
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 Rottweilers. The goal of this research is to identify causative genetic mutations and develop a reliable genetic test for this condition in Rottweilers, to aid breeders in making informed decisions to reduce the prevalence of this condition. Once a chromosomal region of interest is identified via a genome wide association study (GWAS), whole genome sequencing (WGS) will be employed to identify variants associated with SAS. The top variants identified via WGS will be submitted for Sequenom analysis to prioritize variant pursuit.
Funding for the research is provided through the collaborative efforts and generosity of the Rottweiler Health Foundation. The AKC Canine Health Foundation supports the funding of this effort and will oversee grant administration and scientific progress.
Publication(s)
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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