We have recently published our preliminary genetic investigation of idiopathic epilepsy in the Italian Spinone breed in the peer-reviewed, open access journal, PLOS One.
Jenkins CA, De Risio L, Lophatananon A, Lewis TW, Foster D, Johnson J, Lohi H, Mellersh CS, Ricketts SL. Genome-wide association study of idiopathic epilepsy in the Italian Spinone dog breed. PLoS One. 2025 Mar 5;20(3):e0315546. doi: 10.1371/journal.pone.0315546.
Following the clinical characterisation of epilepsy in the breed and demonstration of its high prevalence, over the last 10 years we collected samples from affected and unaffected Spinoni and conducted a genome-wide association study (genome scan) of the disease. We combined two genetic datasets, generated several years apart, and subsequently conducted a replication study of our findings in an independent set of Italian Spinoni collected more recently.
Whilst we have not yet identified any regions of the DNA showing replicable association with idiopathic epilepsy, our work has highlighted the essential requirement of replication and validation of findings for complex diseases such as this, before the development of genetic tools to reduce disease incidence.
We plan to continue to investigate idiopathic epilepsy genetics in the breed during the coming year using a small set of whole genome sequences from affected Italian Spinoni generated during the Give a Dog a Genome project.
