02424: Identification of Genetic Variants Associated with Pulmonary Valve Stenosis in Bulldogs through Whole-Genome Sequencing

Grant Status: Closed

Grant Amount: $56,880
Joshua A Stern, DVM, PhD; University of California, Davis
April 1, 2018 - September 30, 2020

Sponsor(s): French Bulldog Club of America

Breed(s): Bulldog
Research Program Area: Cardiology
Donate to Support this Research Program Area

Abstract

Pulmonary valve stenosis (PS) is a devastating inherited heart disease in dogs and children. It is the most common congenital heart disease in dogs, with Bulldogs being overrepresented. PS is caused by abnormal anatomy of the pulmonary valve that limits ejection of blood into the lungs. Untreated dogs are at risk of sudden death, congestive heart failure, and may die before five years of age. The type of PS (A or B) and presence of abnormal coronary arteries heavily influences prognosis. While treatment aims to open the narrowed valve region, it is expensive, palliative, and not always effective at resolving the clinical condition. Studying the disease in Bulldogs has the potential to identify a genetic mutation for genetic testing. A prior study performed by the investigators has identified chromosomal regions likely to contain mutations for PS Types A/B and coronaryanomalies in the breed. Whole genome sequencing will be used to investigate the regions to identify variants of interest that segregate with the disease. If identified, the results can be used to aid breeding practices to reduce the prevalence of this disease. Additionally, identification of the molecular basis of PS and coronary anomalies may help elucidate novel therapeutic or diagnostic strategies for this condition.

Publication(s)

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

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.

Learn How to Help

Get Canine Health News:
Please leave this field empty
American Kennel Club Canine Health Foundation, Inc

8051 Arco Corporate Dr.
Suite 300
Raleigh, NC 27617
(888)-682-9696

Tax ID# 13-3813813

  

© 2021 AKC Canine Health Foundation | Privacy Policy | Site Map

Site by Blackbaud, Inc.