Abstract
Knowledge on the genetic epidemiology of disorders in the dog population has implications for both veterinary medicine and sustainable breeding. Limited data on frequencies of genetic disease variants across breeds exists, and the disease heritage of mixed breed dogs remains poorly explored to date. Advances in genetic screening technologies now enable comprehensive investigations of the canine disease heritage, and generate health-related big data that can be turned into action. We pursued population screening of genetic variants implicated in Mendelian disorders in the largest canine study sample examined to date by examining over 83,000 mixed breed and 18,000 purebred dogs representing 330 breeds for 152 known variants using a custom-designed beadchip microarray. We further announce the creation of MyBreedData (www.mybreeddata.com), an online updated inherited disorder prevalence resource with its foundation in the generated data. We identified the most prevalent, and rare, disease susceptibility variants across the general dog population while providing the first extensive snapshot of the mixed breed disease heritage. Approximately two in five dogs carried at least one copy of a tested disease variant. Most disease variants are shared by both mixed breeds and purebreds, while breed- or line-specificity of others is strongly suggested. Mixed breed dogs were more likely to carry a common recessive disease, whereas purebreds were more likely to be genetically affected with one, providing DNA-based evidence for hybrid vigor. We discovered genetic presence of 22 disease variants in at least one additional breed in which they were previously undescribed. Some mutations likely manifest similarly independently of breed background; however, we emphasize the need for follow up investigations in each case and provide a suggested validation protocol for broader consideration. In conclusion, our study provides unique insight into genetic epidemiology of canine disease risk variants, and their relevance for veterinary medicine, breeding programs and animal welfare.
Highlights
700 inherited disorders and traits have been described in the domestic dog [1], one of the most genetically well-studied species after humans
We have explored the largest global dog study sample collected to date, consisting of more than 100,000 mixed breed and purebred dogs, to advance research on this subject
We found that mixed breed dogs and purebred dogs potentially suffer from many of the same inherited disorders, and that around two in five dogs carried at least one of the conditions that we screened for
Summary
700 inherited disorders and traits have been described in the domestic dog [1], one of the most genetically well-studied species after humans. Canine epidemiological studies have largely assessed the prevalence of disorders perceived to be complex in their underpinnings, using endpoint diagnoses based on medicalor insurance records as study phenotypes [6,7]. Such approaches are appropriate for complex disorders, for which no predictive direct genetic testing is typically available. We harness that approach to conduct the largest DNA based exploration of the canine disease heritage to date by screening 83,220 mixed breed dogs and 18,102 purebred dogs of varying breed and geographical backgrounds for 152 known Mendelian disease variants, covering the majority of the current 212 canine entries in the Online Mendelian Inheritance in Animals (OMIA) [1] database
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