Breed Distribution of SOD1 Alleles Previously Associated with Canine Degenerative Myelopathy. (13th February 2014)

• Record Type: Journal Article
• Authors: 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.; Johnson, G.S.
• Is Part Of: Journal of veterinary internal medicine. Volume 28:Number 2(2014:Mar./Apr.)
• Page Start: 515
• Page End: 521
• Publication Date: 2014-02-13
• Subjects: Veterinary medicine -- Periodicals; 636.0896
• DOI: 10.1111/jvim.12317
• Languages: English
• ISSNs: 0891-6640

Abstract

<abstract abstract-type="main" id="jvim12317-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="jvim12317-sec-0001" sec-type="section"> <title>Background</title> <p>Previous reports associated 2 mutant <italic>SOD1</italic> alleles (<italic>SOD1:c.118A</italic> and <italic>SOD1:c.52T</italic>) with degenerative myelopathy in 6 canine breeds. The distribution of these alleles in other breeds has not been reported.</p> </sec> <sec id="jvim12317-sec-0002" sec-type="section"> <title>Objective</title> <p>To describe the distribution of <italic>SOD1:c.118A</italic> and <italic>SOD1:c.52T</italic> in 222 breeds.</p> </sec> <sec id="jvim12317-sec-0003" sec-type="section"> <title>Animals</title> <p>DNA from 33, 747 dogs was genotyped at <italic>SOD1:c.118</italic>, <italic> SOD1:c.52</italic>, or both. Spinal cord sections from 249 of these dogs were examined.</p> </sec> <sec id="jvim12317-sec-0004" sec-type="section"> <title>Methods</title> <p>Retrospective analysis of 35, 359 previously determined genotypes at <italic>SOD1:c.118G>A</italic> or <italic>SOD1:c.52A>T</italic> and prospective survey to update the clinical status of a subset of dogs from which samples were obtained with a relatively low ascertainment bias.</p> </sec> <sec id="jvim12317-sec-0005" sec-type="section"> <title>Results</title> <p>The <italic>SOD1:c.118A</italic> allele was found in cross‐bred dogs and in 124 different canine breeds whereas the <italic>SOD1:c.52T</italic> allele was only found in Bernese Mountain Dogs. Most of the dogs with histopathologically confirmed degenerative myelopathy were <italic>SOD1:c.118A</italic> homozygotes, but 8 dogs with histopathologically confirmed degenerative myelopathy were <italic>SOD1:c.118A/G</italic> heterozygotes and had no other sequence variants in their <italic>SOD1</italic> amino acid coding regions. The updated clinical conditions of dogs from which samples were obtained with a relatively low ascertainment bias suggest that <italic>SOD1:c.118A</italic> homozygotes are at a much higher risk of developing degenerative myelopathy than are <italic>SOD1:c.118A/G</italic> heterozygotes.</p> </sec> <sec id="jvim12317-sec-0006" sec-type="section"> <title>Conclusions and Clinical Importance</title> <p>We conclude that the <italic>SOD1:c.118A</italic> allele is widespread and common among privately owned dogs whereas the <italic>SOD1:c.52T</italic> allele is rare and appears to be limited to Bernese Mountain Dogs. We also conclude that breeding to avoid the production of <italic>SOD1:c.118A</italic> homozygotes is a rational strategy.</p> </sec> </abstract>