A genome-wide association study of deafness in three canine breeds

PLoS One. 2020 May 15;15(5):e0232900. doi: 10.1371/journal.pone.0232900. eCollection 2020.


Congenital deafness in the domestic dog is usually related to the presence of white pigmentation, which is controlled primarily by the piebald locus on chromosome 20 and also by merle on chromosome 10. Pigment-associated deafness is also seen in other species, including cats, mice, sheep, alpacas, horses, cows, pigs, and humans, but the genetic factors determining why some piebald or merle dogs develop deafness while others do not have yet to be determined. Here we perform a genome-wide association study (GWAS) to identify regions of the canine genome significantly associated with deafness in three dog breeds carrying piebald: Dalmatian, Australian cattle dog, and English setter. We include bilaterally deaf, unilaterally deaf, and matched control dogs from the same litter, phenotyped using the brainstem auditory evoked response (BAER) hearing test. Principal component analysis showed that we have different distributions of cases and controls in genetically distinct Dalmatian populations, therefore GWAS was performed separately for North American and UK samples. We identified one genome-wide significant association and 14 suggestive (chromosome-wide) associations using the GWAS design of bilaterally deaf vs. control Australian cattle dogs. However, these associations were not located on the same chromosome as the piebald locus, indicating the complexity of the genetics underlying this disease in the domestic dog. Because of this apparent complex genetic architecture, larger sample sizes may be needed to detect the genetic loci modulating risk in piebald dogs.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Case-Control Studies
  • Deafness / congenital
  • Deafness / genetics
  • Deafness / veterinary*
  • Dog Diseases / genetics*
  • Dogs
  • Evoked Potentials, Auditory
  • Genetic Loci
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study
  • Hearing Tests
  • Polymorphism, Single Nucleotide
  • Selective Breeding
  • Skin Pigmentation / genetics

Associated data

  • Dryad/10.5061/dryad.sf7m0cg2n

Grant support

Financial support from the American Kennel Club Canine Health Foundation (http://www.akcchf.org/) through grants CHF 2172 (GMS and ARB) and CHF 2387 (GMS). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.