Peer-reviewed veterinary case report
Genetic risk region found for laryngeal paralysis in Alaskan sled dogs
By Srikanth, Krishnamoorthy et al.·Published in Genes·2022·Department of Animal Science, United States·View original on PubMed →
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Original publication title: Genome Wide Association Study with Imputed Whole Genome Sequence Data Identifies a 431 kb Risk Haplotype on CFA18 for Congenital Laryngeal Paralysis in Alaskan Sled Dogs.
- Species:
- dog
Plain-English summary
A group of Alaskan sled dogs with congenital laryngeal paralysis (CLP) were found to have a specific genetic mutation linked to their condition. This inherited disorder affects their ability to exercise and perform as working sled dogs. Researchers identified a 431 kb region in their DNA that is associated with CLP, and most affected dogs had a unique genetic marker. The findings suggest that this genetic risk factor could help in understanding and potentially managing CLP in these dogs.
People also search for: Alaskan sled dog laryngeal paralysis symptoms · congenital laryngeal paralysis in dogs · genetic testing for dog breathing problems
Abstract
Congenital laryngeal paralysis (CLP) is an inherited disorder that affects the ability of the dog to exercise and precludes it from functioning as a working sled dog. Though CLP is known to occur in Alaskan sled dogs (ASDs) since 1986, the genetic mutation underlying the disease has not been reported. Using a genome-wide association study (GWAS), we identified a 708 kb region on CFA 18 harboring 226 SNPs to be significantly associated with CLP. The significant SNPs explained 47.06% of the heritability of CLP. We narrowed the region to 431 kb through autozygosity mapping and found 18 of the 20 cases to be homozygous for the risk haplotype. Whole genome sequencing of two cases and a control ASD, and comparison with the genome of 657 dogs from various breeds, confirmed the homozygous status of the risk haplotype to be unique to the CLP cases. Most of the dogs that were homozygous for the risk allele had blue eyes. Gene annotation and a gene-based association study showed that the risk haplotype encompasses genes implicated in developmental and neurodegenerative disorders. Pathway analysis showed enrichment of glycoproteins and glycosaminoglycans biosynthesis, which play a key role in repairing damaged nerves. In conclusion, our results suggest an important role for the identified candidate region in CLP.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/36292693/