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.
Highlights
Chr3:71,917,591; allelic P = 0.85). These findings suggest that the four single nucleotide polymorphisms (SNPs), including the missense variant in the adhesion G protein-coupled receptor L3 (ADGRL3) region, are not associated with risk for equine neuroaxonal dystrophy (eNAD)/Equine degenerative myeloencephalopathy (EDM) across multiple breeds of horses
Equine neuroaxonal dystrophy/equine degenerative myeloencephalopathy is a neurologic disease that has been reported in young horses from a wide range of breeds
Individual horse genotypes for each SNP are provided in Supplementary Table S1
Summary
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. Equine degenerative myeloencephalopathy (EDM) is a more histologically advanced form of equine neuroaxonal dystrophy (eNAD). Equine NAD/EDM has been associated with vitamin E deficiency during the first two years of life [1], resulting in the development of bilaterally symmetric proprioceptive ataxia [2,3]. It has been hypothesized that eNAD/EDM has either an autosomal dominant or polygenic mode of inheritance [5,6,7]. Diagnosis of eNAD/EDM can only be confirmed by postmortem histological evaluation of the brainstem and spinal cord [3]. Four single nucleotide polymorphisms (SNPs) were recently identified to be associated with
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