Juvenile idiopathic epilepsy in Arabian horses is not a single-gene disorder.

Autor: Ciosek J; Department of Animal Sciences, University of Florida, Gainesville, FL, USA., Kimes A; Department of Animal Sciences, University of Florida, Gainesville, FL, USA., Vinardell T; Equine Veterinary Medical Center, Hamad Bin Khalifa University, Doha, Qatar., Miller DC; Baker Institute for Animal Health, College of Veterinary Medicine, Cornell University, Ithaca, NY, USA., Antczak DF; Baker Institute for Animal Health, College of Veterinary Medicine, Cornell University, Ithaca, NY, USA., Brooks S; Department of Animal Sciences, University of Florida, Gainesville, FL, USA.; UF Genetics Institute, University of Florida, Gainesville, FL, USA.
Jazyk: angličtina
Zdroj: The Journal of heredity [J Hered] 2023 Aug 23; Vol. 114 (5), pp. 488-491.
DOI: 10.1093/jhered/esad029
Abstrakt: 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 6 months of age. Affected foals exhibit tonic-clonic seizures lasting as long as 5 min 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 genome wide association study (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, gray) 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.
(© The Author(s) 2023. Published by Oxford University Press on behalf of The American Genetic Association. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)
Databáze: MEDLINE