Peer-reviewed veterinary case report
Genetics behind exercise collapse in Border Collies explained
By Norton, Elaine M et al.·Published in Genes·2021·Department of Veterinary Population Medicine, United States·View original on PubMed →
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Original publication title: Heritability and Genomic Architecture of Episodic Exercise-Induced Collapse in Border Collies.
- Species:
- dog
Plain-English summary
A group of Border Collies was studied to understand a condition called border collie collapse (BCC), which causes them to have episodes of weakness after intense exercise. Researchers found that this disorder is likely inherited, with around 49-61% of the risk being genetic. They identified thousands of genetic markers linked to BCC, suggesting that many small genetic changes contribute to the condition. This information can help veterinarians and dog owners recognize the genetic nature of BCC and manage the health of affected dogs better.
People also search for: border collie collapse symptoms · exercise-induced weakness in dogs · genetic testing for border collies
Abstract
An episodic nervous system disorder triggered by strenuous exercise, termed border collie collapse (BCC), exists in border collies and related breeds. The genetic basis of BCC is unknown but is believed to be a complex genetic disorder. Our goal was to estimate the heritability (h) of BCC, define its underlying genetic architecture, and identify associated genomic loci using dense whole-genome single-nucleotide polymorphism (SNP) genotyping data. Genotype data were obtained for ~440,000 SNPs from 343 border collies (168 BCC cases and 175 controls). hwas calculated to be 49-61% depending on the estimated BCC prevalence. A total of 2407 SNPs across the genome accounted for nearly all the h2of BCC, with an estimated 2003 SNPs of small effect, 349 SNPs of moderate effect, and 56 SNPs of large effect. Genome-wide association analyses identified significantly associated loci on chromosomes 1, 6, 11, 20, and 28, which accounted for ~5% of the total BCC hWe conclude that BCC is a moderately- to highly-heritable complex polygenetic disease resulting from contributions from hundreds to thousands of genetic variants with variable effect sizes. Understanding how much the BCC phenotype is determined by genetics and whether major gene mutations are likely to exist inform veterinarians and working/stock dog communities of the true nature of this condition.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/34946876/