Association mapping study of Legg-Calve-Perthes Disease in the West Highland White Terrier, Yorkshire Terrier, and Cairn Terrier
The purpose of this work is to identify SNPs that are linked to Legg-Calve-Perthes Disease (LCPD) in small dog breeds. LCPD is a debilitating orthopedic disease that is primarily treated by surgical excision of the affected femoral head and neck of young (<18 months of age) dogs. The fact that breeds of small stature, especially terriers, comprise the overwhelming majority of LCPD cases strongly suggests a genetic component to this disease. Much research has been completed in both dog and human, but the etiology of LCPD remains unknown. Proposed causes of LCPD include coagulation deficiencies, endocrine abnormality, trauma, and myeloproliferative disorders. The list of candidate genes involved in blood clotting, skeletal development, and skeletal maturation is too overwhelming to consider a targeted gene approach. The most efficient resource for identifying genomic regions associated with disease is the canine SNP array, which utilizes natural variations among dogs and looks for patterns common among all affected dogs. Such regions can be targeted for further studies with the ultimate goal of identifying the mutation(s) that lead to disease. These mutations may allow for the development of a genetic test. A genetic test predictive for LCPD has the potential to (1) improve existing diagnostic procedures, (2) aid in the development of new preventive protocols (e.g., vaccination series) to avoid exposure to precipitating stresses, and (3) ensure that patients receive prompt, appropriate, and effective therapy. Assuming a genetic etiology is defined, determination of affected and carrier individuals can allow tailored breeding programs aimed at reducing the incidence of LCPD without major detriment to breed characteristics.More Information
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