Peer-reviewed veterinary case report
Genetic link to deafness found on chromosome 20 in Australian Cattle
By Seddon, J M et al.·Published in Animal genetics·2021·School of Veterinary Science, Australia·View original on PubMed →
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Original publication title: Deafness in Australian Cattle Dogs associated to QTL on chromosome 20 in genome-wide association study analyses.
- Species:
- dog
Plain-English summary
A study found that deafness in Australian Cattle Dogs may be linked to specific genetic changes on chromosome 20. This condition is often hereditary and can be associated with white pigmentation in dogs. Researchers analyzed the DNA of 216 dogs and identified a significant genetic marker that could indicate a risk for deafness. While the findings suggest that this genetic variant may play a role in the condition, more research is needed to confirm these results and explore how they affect other breeds.
People also search for: Australian Cattle Dog deafness genetics · dog hearing loss causes · hereditary deafness in dogs
Abstract
Pigment-associated deafness is a common hereditary condition in a range of dog breeds. The aim of this study was to perform a genome-wide association analysis to investigate the genetic architecture of deafness in Australian Cattle Dogs. Genotypes for 104 757 polymorphisms in 216 dogs were available for analyses after quality control. A genomic relationship matrix was used in the mixed model analyses to account for polygenic effects, as we tested each polymorphism for its association with deafness, in a case/control experimental design. Three approaches were used to code the genotypes and test for additive, recessive and dominant SNP effects. The genome-wide association study analyses identified a clear association peak on CFA20, with the most significant SNPs on this chromosome (1.29 × 10) in the vicinity of MITF. Variants in MITF have been associated with white pigmentation in dogs and with deafness in humans and other species, supporting the premise that canine deafness is associated with variants in or near this gene. A recessive inheritance for the peak in CFA20 is possible given the significant results in the recessive model; however, the estimated heritability was low (4.54 × 10). Further validation, identification of variants and testing in other dog breeds are needed.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/34318504/