Whole genome QTL study identifies candidate loci associated to syringomyelia

Background: Syringomyelia (SM) is a common condition affecting brachycephalic toy breed dogs and is characterized by the development of fluid-filled cavities within the spinal cord. It is often concurrent with a complex developmental malformation of the skull and craniocervical vertebrae called Chiari-like malformation (CM) characterized by a conformational change and overcrowding of the brain and cervical spinal cord particularly at the craniocervical junction. CM and SM have a polygenic mode of inheritance with variable penetrance. To identify the presence of causative haplotype for Syringomyelia 96 Cavalier King Charles Spaniels dogs were genotyped using Illumina CanineHD Beadchip. This cohort consisted of 41 cases and 55 controls. Linear and mixed regression model were used to define association between morphologic traits and genetic data