Peer-reviewed veterinary case report
Genetic testing for cystinuria in Danish English bulldogs
By Fitzwilliams, Therese et al.·Published in Animal genetics·2023·Sams Dyreklinik·View original on PubMed →
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Original publication title: Evaluation of the value of genetic testing for cystinuria in the Danish population of English bulldogs.
- Species:
- dog
Plain-English summary
A group of English bulldogs in Denmark was tested for genetic mutations linked to cystinuria, a condition that can cause painful bladder stones. The study found that certain genetic mutations were common among these dogs, particularly in males, but the overall genetic diversity was low. Because of this, the researchers do not recommend using genetic testing alone to make breeding decisions, but they suggest that the results could help guide preventative care for affected dogs. This means that if your bulldog has a genetic predisposition, your vet might recommend treatments to prevent bladder stones.
People also search for: English bulldog cystinuria symptoms · genetic testing for bulldogs · bladder stones in dogs treatment
Abstract
Cystinuria is a genetic disease that can lead to cystine urolith formation. The English bulldog is the dog breed most frequently affected. In this breed, three missense mutations have been suggested to be associated with cystinuria: c.568A>G and c.2086A>G in SLC3A1 and c.649G>A in SLC7A9. In this study, the occurrence of these three mutations in the Danish population of English bulldogs was investigated. Seventy-one English bulldogs were genotyped using TaqMan assays. The dogs' owners were given questionnaires concerning the medical histories of their dogs. Allele frequencies of 0.40, 0.40, and 0.52 were found for the mutant alleles in the three loci: c.568A>G, c.2086A>G, and c.649G>A, respectively. For both mutations in SLC3A1, a statistically significant association was found between cystinuria and homozygosity for the G allele among male, English bulldogs. For the mutation in SLC7A9, there was no statistically significant association between homozygosity for the mutant allele and cystinuria. Due to high allele frequencies, limited genetic diversity, continued uncertainty about the genetic background of cystinuria, and more severe health problems in the breed, selection based on genetic testing for the mutations in SLC3A1 cannot be recommended in the Danish population of English bulldogs. However, results of the genetic test may be used as a guide to recommend prophylactic treatment.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/36971195/