Previously Identified Genetic Variants in ADGRL3 Are not Associated with Risk for Equine Degenerative Myeloencephalopathy across Breeds

Sabin A. Marquardt, Callie V. Wilcox, Erin N. Burns, Janel A. Peterson, Carrie J Finno

Research output: Contribution to journalArticle

Abstract

Equine neuroaxonal dystrophy/equine degenerative myeloencephalopathy (eNAD/EDM) is a neurologic disease that has been reported in young horses from a wide range of breeds. The disease is inherited and associated with vitamin E deficiency during the first two years of life, resulting in bilateral symmetric ataxia. A missense mutation (chr3:71,917,591 C > T) within adhesion G protein-coupled receptor L3 (ADGRL3) was recently associated with risk for EDM in the Caspian breed. In order to confirm these findings, genotyping of this missense mutation, along with the three other associated single nucleotide polymorphisms (SNPs) in the genomic region, was carried out on 31 postmortem-confirmed eNAD/EDM cases and 43 clinically phenotyped controls from various breeds. No significant association was found between eNAD/EDM confirmed cases and genotype at any of the four identified SNPs (P > 0.05), including the nonsynonymous variant (EquCab2.0 chr3:71,917,591; allelic P = 0.85). These findings suggest that the four SNPs, including the missense variant in the ADGRL3 region, are not associated with risk for eNAD/EDM across multiple breeds of horses.

Original languageEnglish (US)
JournalGenes
Volume10
Issue number9
DOIs
StatePublished - Sep 5 2019

Fingerprint

G-Protein-Coupled Receptors
Horses
Neuroaxonal Dystrophies
Single Nucleotide Polymorphism
Missense Mutation
Vitamin E Deficiency
Ataxia
Nervous System Diseases
Genotype

Keywords

  • equine neuroaxonal dystrophy
  • horse
  • vitamin E

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Previously Identified Genetic Variants in ADGRL3 Are not Associated with Risk for Equine Degenerative Myeloencephalopathy across Breeds. / Marquardt, Sabin A.; Wilcox, Callie V.; Burns, Erin N.; Peterson, Janel A.; Finno, Carrie J.

In: Genes, Vol. 10, No. 9, 05.09.2019.

Research output: Contribution to journalArticle

Marquardt, Sabin A. ; Wilcox, Callie V. ; Burns, Erin N. ; Peterson, Janel A. ; Finno, Carrie J. / Previously Identified Genetic Variants in ADGRL3 Are not Associated with Risk for Equine Degenerative Myeloencephalopathy across Breeds. In: Genes. 2019 ; Vol. 10, No. 9.
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