Global Frequency Analyses of Canine Progressive Rod-Cone Degeneration-Progressive Retinal Atrophy and Collie Eye Anomaly Using Commercial Genetic Testing Data

• Published in: Genes Vol. 14; no. 11; p. 2093
• Main Authors: Clark, Jessica A, Anderson, Heidi, Donner, Jonas, Pearce-Kelling, Susan, Ekenstedt, Kari J
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 01-11-2023
• Subjects: Animals; Atrophy; Datasets; Disease; Dogs; Gene frequency; Genetic diversity; Genetic screening; Genetic Testing; Genotype; Genotypes; Geographical distribution; Mutation; Pedigree; Population genetics; Retina; Retinal degeneration; Retinal Degeneration - genetics; Retinal Degeneration - veterinary; United Kingdom; Sweden; Australia; Nova Scotia; country; vision; blind; disease; geography; distribution; dog; optic; breed
• ISSN: 2073-4425; 2073-4425
• DOI: 10.3390/genes14112093

Hundreds of genetic variants associated with canine traits and disorders have been identified, with commercial tests offered. However, the geographic distributions and changes in allele and genotype frequencies over prolonged, continuous periods of time are lacking. This study utilized a large set of genotypes from dogs tested for the progressive rod-cone degeneration-progressive retinal atrophy (prcd-PRA) G>A missense
variant (
= 86,667) and the collie eye anomaly (CEA)-associated
deletion (
= 33,834) provided by the commercial genetic testing company (Optigen/Wisdom Panel, Mars Petcare Science & Diagnostics). These data were analyzed using the chi-square goodness-of-fit test, time-trend graphical analysis, and regression modeling in order to evaluate how test results changed over time. The results span fifteen years, representing 82 countries and 67 breeds/breed mixes. Both diseases exhibited significant differences in genotype frequencies (
= 2.7 × 10
for prcd-PRA and 0.023 for CEA) with opposing graphical trends. Regression modeling showed time progression to significantly affect the odds of a dog being homozygous or heterozygous for either disease, as do variables including breed and breed popularity. This study shows that genetic testing informed breeding decisions to produce fewer affected dogs. However, the presence of dogs homozygous for the disease variant, especially for prcd-PRA, was still observed fourteen years after test availability, potentially due to crosses of unknown carriers. This suggests that genetic testing of dog populations should continue.