Juvenile Idiopathic Epilepsy in Arabian Horses is not a Single Gene Disorder

Juvenile Idiopathic Epilepsy in Arabian Horses is not a Single Gene Disorder
J Hered. 2023 May 5;
Authors
Julia Ciosek 1 , Abigail Kimes 1 , Tatiana Vinardell 2 , Donald C Miller 3 , Douglas F Antczak 3 , Samantha Brooks 1 4
Affiliations

1 Department of Animal Sciences, University of Florida, 2250 Shealy Drive, Gainesville, FL 32611-0910, USA.
2 Equine Veterinary Medical Center, Hamad Bin Khalifa University, Doha, Qatar.
3 Baker Institute for Animal Health, College of Veterinary Medicine, Cornell University, Ithaca, NY, 14853, USA.
4 UF Genetics Institute, University of Florida, 2250 Shealy Drive, Gainesville, FL 32611-0910, USA.

PMID: 37145017
DOI: 10.1093/jhered/esad029

Abstract

Valued for their temperament, beauty, athletic ability, and exhibition in the show ring, Arabian horses are an important component of the horse industry. Juvenile Idiopathic Epilepsy (JIE), a seizure disorder, is most often reported in Arabian foals from birth to six months of age. Affected foals exhibit tonic-clonic seizures lasting as long as five minutes and risking secondary complications like temporary blindness and disorientation. Some foals outgrow this condition, while others die or suffer lifelong complications if not treated. Previous work suggested a strong genetic component to JIE and proposed JIE to be a single-gene trait. In this work we conducted a GWAS in 60 cases of JIE and 120 genetically matched controls, identifying loci suggesting JIE is not caused by a single locus. Coat color (chestnut, grey) phenotypes were used as positive control traits to assess the efficacy of GWAs in this population. Future work will attempt to future define candidate regions and explore a polygenic mode of inheritance.

Keywords: arabian horse; equine; seizures.