Peer-reviewed veterinary case report
Current status of genetic studies of exocrine pancreatic insufficiency in dogs.
- Journal:
- Topics in companion animal medicine
- Year:
- 2012
- Authors:
- Clark, Leigh Anne & Cox, Melissa L
- Affiliation:
- Department of Genetics and Biochemistry · United States
- Species:
- dog
Plain-English summary
Exocrine pancreatic insufficiency (EPI) is a condition in dogs where the pancreas doesn't produce enough digestive enzymes, often due to an autoimmune disease called pancreatic acinar atrophy. It was once thought to be a simple genetic issue, but recent studies show that multiple genes and environmental factors play a role in how the disease appears and progresses. Researchers are working to find the specific genetic changes that cause EPI, which could help breeders eliminate the disease and give veterinarians new ways to treat or prevent it. Although earlier studies in German Shepherds with EPI didn't find a single major genetic cause, newer research has identified several areas in the dog's genome that may be linked to the condition. Overall, the findings are helping to deepen our understanding of EPI in purebred dogs.
Abstract
Exocrine pancreatic insufficiency (EPI) is a disorder wherein the pancreas fails to secrete adequate amounts of digestive enzymes. In dogs, EPI is usually the consequence of an autoimmune disease known as pancreatic acinar atrophy. Originally believed to be a simple autosomal recessive disorder, a test-breeding recently revealed that EPI has a more complex mode of inheritance. The contributions of multiple genes, combined with environmental factors, may explain observed variability in clinical presentation and progression of this disease. Research efforts aim to identify genetic variations underlying EPI to assist breeders in their efforts to eliminate this disease from their breed and provide clinicians with new targets for therapeutic intervention and/or disease prevention. Genome-wide linkage, global gene expression, and candidate gene analyses have failed to identify a major locus or genetic variations in German Shepherd Dogs with EPI. Recently, genome-wide association studies revealed numerous genomic regions associated with EPI. Current studies are focused on alleles of the canine major histocompatibility complex. In this article we review findings from scientific investigations into the inheritance and genetic cause(s) of EPI in the purebred dog.
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Search related cases →Original publication: https://pubmed.ncbi.nlm.nih.gov/23148850/