Breed Distribution of SOD1 Alleles Previously Associated with Canine Degenerative Myelopathy
Version of Record online: 13 FEB 2014
Copyright © 2014 The Authors. Journal of Veterinary Internal Medicine published by Wiley Periodicals, Inc. on behalf of American College of Veterinary Internal Medicine
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Journal of Veterinary Internal Medicine
Volume 28, Issue 2, pages 515–521, March/April 2014
How to Cite
Zeng, R., Coates, J.R., Johnson, G.C., Hansen, L., Awano, T., Kolicheski, A., Ivansson, E., Perloski, M., Lindblad-Toh, K., O'Brien, D.P., Guo, J., Katz, M.L. and Johnson, G.S. (2014), Breed Distribution of SOD1 Alleles Previously Associated with Canine Degenerative Myelopathy. Journal of Veterinary Internal Medicine, 28: 515–521. doi: 10.1111/jvim.12317
- Issue online: 15 MAR 2014
- Version of Record online: 13 FEB 2014
- Manuscript Accepted: 2 JAN 2014
- Manuscript Revised: 9 DEC 2013
- Manuscript Received: 19 JUN 2013
- AKC Canine Health Foundation. Grant Numbers: 821, 1213A
- University of Missouri, College of Veterinary Medicine Faculty Research Award
- ALS Association. Grant Number: 6054
- Orthopedic Foundation for Animals
- Swedish Research Council
- Amyotrophic lateral sclerosis;
- Cytoplasmic aggregates;
- DNA test;
- Spinal cord
Previous reports associated 2 mutant SOD1 alleles (SOD1:c.118A and SOD1:c.52T) with degenerative myelopathy in 6 canine breeds. The distribution of these alleles in other breeds has not been reported.
To describe the distribution of SOD1:c.118A and SOD1:c.52T in 222 breeds.
DNA from 33,747 dogs was genotyped at SOD1:c.118, SOD1:c.52, or both. Spinal cord sections from 249 of these dogs were examined.
Retrospective analysis of 35,359 previously determined genotypes at SOD1:c.118G>A or SOD1:c.52A>T and prospective survey to update the clinical status of a subset of dogs from which samples were obtained with a relatively low ascertainment bias.
The SOD1:c.118A allele was found in cross-bred dogs and in 124 different canine breeds whereas the SOD1:c.52T allele was only found in Bernese Mountain Dogs. Most of the dogs with histopathologically confirmed degenerative myelopathy were SOD1:c.118A homozygotes, but 8 dogs with histopathologically confirmed degenerative myelopathy were SOD1:c.118A/G heterozygotes and had no other sequence variants in their SOD1 amino acid coding regions. The updated clinical conditions of dogs from which samples were obtained with a relatively low ascertainment bias suggest that SOD1:c.118A homozygotes are at a much higher risk of developing degenerative myelopathy than are SOD1:c.118A/G heterozygotes.
Conclusions and Clinical Importance
We conclude that the SOD1:c.118A allele is widespread and common among privately owned dogs whereas the SOD1:c.52T allele is rare and appears to be limited to Bernese Mountain Dogs. We also conclude that breeding to avoid the production of SOD1:c.118A homozygotes is a rational strategy.