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Frequency and distribution of 152 genetic disease variants in over 100,000 mixed breed and purebred dogs

Donner, Jonas ; Anderson, Heidi ; Davison, Stephen ; Hughes, Angela M ; Bouirmane, Julia ; Lindqvist, Johan ; Lytle, Katherine M ; Ganesan, Balasubramanian ; Ottka, Claudia ; Ruotanen, Päivi ; Kaukonen, Maria ; Forman, Oliver P ; Fretwell, Neale ; Cole, Cynthia A ; Lohi, Hannes Leeb, Tosso

PLoS genetics, 2018-04, Vol.14 (4), p.e1007361-e1007361 [Periódico revisado por pares]

United States: Public Library of Science

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Título:
Frequency and distribution of 152 genetic disease variants in over 100,000 mixed breed and purebred dogs
Autor: Donner, Jonas ; Anderson, Heidi ; Davison, Stephen ; Hughes, Angela M ; Bouirmane, Julia ; Lindqvist, Johan ; Lytle, Katherine M ; Ganesan, Balasubramanian ; Ottka, Claudia ; Ruotanen, Päivi ; Kaukonen, Maria ; Forman, Oliver P ; Fretwell, Neale ; Cole, Cynthia A ; Lohi, Hannes
Leeb, Tosso
Assuntos: Analysis ; Animal welfare ; Animals ; Biology and Life Sciences ; Breeding ; Breeding of animals ; Databases, Genetic ; Deoxyribonucleic acid ; Diseases ; DNA ; DNA microarrays ; Dog diseases ; Dog Diseases - epidemiology ; Dog Diseases - genetics ; Dogs ; Dogs - genetics ; Engineering and Technology ; Epidemiology ; Female ; Gene Frequency ; Genes, Recessive ; Genetic aspects ; Genetic disorders ; Genetic diversity ; Genetic Predisposition to Disease ; Genetic screening ; Genetic Testing - veterinary ; Genetic Variation ; Genome-wide association studies ; Genomes ; Hybrid Vigor ; Laboratories ; Male ; Medicine and Health Sciences ; Molecular Epidemiology ; Mutation ; Oligonucleotide Array Sequence Analysis - veterinary ; Population genetics ; Prevalence ; Rare diseases ; Species Specificity ; Supervision ; Veterinary medicine ; Vigor
É parte de: PLoS genetics, 2018-04, Vol.14 (4), p.e1007361-e1007361
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I have read the journal's policy and the authors of this manuscript have the following competing interests: HL is a co-founder of Genoscoper Laboratories that offers canine DNA testing as a commercial service. JD, HA, JB, CO, and PR are employees of Genoscoper Laboratories. JL is an employee of Medisapiens Ltd that specializes in Bio-IT technology platform development. SD, AMH, KML, BG, OPF, NF, and CAC are employees of Wisdom Health that offers canine DNA testing as a commercial service.
Descrição: 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.
Editor: United States: Public Library of Science
Idioma: Inglês

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Frequency and distribution of 152 genetic disease variants in over 100,000 mixed breed and purebred dogs

Donner, Jonas ; Anderson, Heidi ; Davison, Stephen ; Hughes, Angela M ; Bouirmane, Julia ; Lindqvist, Johan ; Lytle, Katherine M ; Ganesan, Balasubramanian ; Ottka, Claudia ; Ruotanen, Päivi ; Kaukonen, Maria ; Forman, Oliver P ; Fretwell, Neale ; Cole, Cynthia A ; Lohi, Hannes Leeb, Tosso

United States: Public Library of Science

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