Plant/Animal Biology
A Genome-Wide Association Study of Legg-Calve-Perthes Disease in Small Breed Dogs Reveals the Polygenic Inheritance of the Disease
Tyler Handler
Plant/Animal Biology
Tyler Handler
Legg-Calve-Perthes disease (LCPD) is a juvenile-onset hip-joint disease that occurs in an estimated 2% of small breed dogs. It is characterized by cell death to the femoral head, the part of the hip joint that acts as the ball in the hip’s ball-and-socket joint. Common symptoms include lameness, hip pain, inability to bear weight on the joint, shrinkage of leg muscles, and decreased joint function. Diagnosis is made by clinical observation of lameness and then confirmed by x-ray. However, the lameness does not manifest until the disease progresses, and the earlier the diagnosis, the better the recovery following treatment. The most common treatment is surgery, which is often expensive and invasive with long recovery times. Genetic testing does not yet exist for the disease in dogs. Therefore, we attempted to genetically map LCPD in dogs using 148 cases and 167 controls by conducting a genome-wide association study (GWAS), a genetic technique that compares the DNA between groups of individuals that have a trait or disease to those who do not in order to find common genetic variants associated with the trait. Unfortunately, none of the genetic variants tested reached the p-value threshold, and we conclude that LCPD is a polygenic disease, which contradicts the autosomal recessive model proposed by previous literature.