1313: Identification of a Genetic Marker for Familial Aortic Stenosis in the Rottweiler
Grant Status: Closed
Project SummarySubvalvular Aortic Stenosis (SAS) is a common canine 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 and severely affected dogs have an average lifespan of 19 months. The investigators are trying to identify a genetic marker associated with this disease but it is very important that they have a small blood sample from affected and unaffected Rottweilers that have been evaluated by a cardiologist. The national Rottweiler organization and many, many Rottweiler owners provided them with a small blood sample from their dog to help them identify a genetic region that may be associated with the development of aortic stenosis. DNA from 28 SAS affected Rottweilers and 20 normal Rottweilers was selected to perform a single nucleotide polymorphism array. This test provides the DNA sequence for over 170,000 points in the dog genome. Differences between the normal and affected Rottweilers are utilized (genome wide association analysis) to identify regions of the Rottweiler genome that may contain a causative genetic mutation for SAS. Through statistical analysis a region of chromosome 21 was indicated as the most likely to contain a causative mutation for SAS. Through an independently funded study in the investigator's laboratory for golden retrievers with SAS they found that the results of the Golden Retrievers parallel those with Rottwelers. This implicates the possibility for a shared causative mutation between Rottweilers and Golden Retrievers with SAS. Evaluation of genes within this region on chromosome 21 is the next step toward discovery of the genetic mutation responsible for SAS in Rottweilers.
Help Future Generations of Dogs
Participate in canine health research by providing samples or by enrolling in a clinical trial. Samples are needed from healthy dogs and dogs affected by specific diseases.