Idiopathic epilepsy (IE) has a high prevalence and a severe clinical course in the Italian Spinone breed of dog. A genome-wide association study meta-analysis of 52 cases and 51 controls was conducted to identify genomic regions that may be involved with the development of IE. Subsequent to the meta-analysis, a set of 175 controls and an independent validation set of 23 cases and 23 controls were genotyped for SNPs showing suggestive association with IE to find variants exhibiting evidence of replicable association and to test the predictiveness of SNPs for IE status when combined in a weighted risk score. Although two regions showed statistically significant association with IE in the GWAS meta-analysis, and additional regions with suggestive association were identified, the findings were not emulated in the validation set. This is the first GWAS of IE in the Italian Spinone, and the findings suggest that IE in the breed is not monogenic and demonstrates the challenges when investigating a multigenic or complex inherited disease in a numerically small domesticated animal population.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11882058 | PMC |
| http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0315546 | PLOS |
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Genome-wide association study of idiopathic epilepsy in the Italian Spinone dog breed.
PLoS One
March 2025
Department of Veterinary Medicine, Canine Genetics Centre, University of Cambridge, Cambridge, United Kingdom (Formerly at the Animal Health Trust, Newmarket, Suffolk, United Kingdom).
Idiopathic epilepsy (IE) has a high prevalence and a severe clinical course in the Italian Spinone breed of dog. A genome-wide association study meta-analysis of 52 cases and 51 controls was conducted to identify genomic regions that may be involved with the development of IE. Subsequent to the meta-analysis, a set of 175 controls and an independent validation set of 23 cases and 23 controls were genotyped for SNPs showing suggestive association with IE to find variants exhibiting evidence of replicable association and to test the predictiveness of SNPs for IE status when combined in a weighted risk score.
View Article and Find Full Text PDFImproving the resolution of canine genome-wide association studies using genotype imputation: A study of two breeds.
Anim Genet
October 2021
Department of Veterinary Medicine, Kennel Club Genetics Centre1, University of Cambridge, Cambridge, UK.
Genotype imputation using a reference panel that combines high-density array data and publicly available whole genome sequence consortium variant data is potentially a cost-effective method to increase the density of extant lower-density array datasets. In this study, three datasets (two Border Collie; one Italian Spinone) generated using a legacy array (Illumina CanineHD, 173 662 SNPs) were utilised to assess the feasibility and accuracy of this approach and to gather additional evidence for the efficacy of canine genotype imputation. The cosmopolitan reference panels used to impute genotypes comprised dogs of 158 breeds, mixed breed dogs, wolves and Chinese indigenous dogs, as well as breed-specific individuals genotyped using the Axiom Canine HD array.
View Article and Find Full Text PDFStudy on epilepsy in the Italian spinone.
Vet Rec
February 2016
ISCGB Health Co-ordinator, 217 May Lane, Kings Heath, Birmingham B14 4AW.
Idiopathic epilepsy in the Italian Spinone in the United Kingdom: prevalence, clinical characteristics, and predictors of survival and seizure remission.
J Vet Intern Med
May 2016
Centre for Small Animal Studies, Animal Health Trust, Suffolk, UK.
Background: There is lack of data on idiopathic epilepsy (IE) in the Italian Spinone (IS).
Objectives: To estimate the prevalence of IE in the IS in the United Kingdom (UK) and to investigate predictors of survival and seizure remission.
Animals: The target population consisted of 3331 IS born between 2000 and 2011 and registered with the UK Kennel Club (KC).
Spinocerebellar ataxia in the Italian Spinone dog is associated with an intronic GAA repeat expansion in ITPR1.
Mamm Genome
February 2015
Kennel Club Genetics Centre, Animal Health Trust, Kentford, Newmarket, Suffolk, CB8 7UU, UK,
Spinocerebellar ataxia in the Italian Spinone dog breed is characterised by a progressive gait abnormality that manifests from approximately 4 months of age. The disorder shows an autosomal recessive mode of inheritance, and affected individuals are usually euthanized by one year of age on welfare grounds due to an inability to ambulate. Using a homozygosity mapping technique with six cases and six controls, we mapped the disease locus to chromosome 20 of the canine genome.
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