The incidence of genetic disease alleles in Australian Shepherd dog breed in European countries

PLoS One. 2023 Feb 27;18(2):e0281215. doi: 10.1371/journal.pone.0281215. eCollection 2023.


Genetic disease control is generally not given the importance it deserves. Information about what percentage of individuals carry a disorder-causing mutation is crucial for breeders to produce healthy offspring and maintain a healthy dog population of a particular breed. This study aims to provide information about the incidence of mutant alleles for the most frequently occurring hereditary diseases in the Australian Shepherd dog breed (AS). The samples were collected during a 10-years period (2012-2022) in the European population of the AS. Mutant alleles and incidence were calculated from all the obtained data for all the diseases, specifically: collie eye anomaly (9.71%), canine multifocal retinopathy type 1 (0.53%), hereditary cataract (11.64%), progressive rod-cone degeneration (1.58%), degenerative myelopathy (11.77%) and bob-tail/short-tail (31.74%). Our data provide more information to dog breeders to support their effort to limit the spread of hereditary diseases.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Animals
  • Australia / epidemiology
  • Cataract*
  • Dogs
  • Europe / epidemiology
  • Incidence

Grants and funding

This work was supported by institutional resources of Slovgen Ltd., as part of the internal research project 2016-SG-01 in collaboration with the Department of Molecular Biology, Faculty of Natural Sciences, Comenius University in Bratislava. Slovgen Ltd. provided support in the form of salary for author ZM from 2022. The specific role of this author is articulated in the ‘author contributions’ section. The funder had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.