Peer-reviewed veterinary case report
Gene region on chromosome 16 linked to Doberman heart disease
By Polenberg, Alex et al.·Published in Scientific reports·2024·Department of Mathematics, United States·View original on PubMed →
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Original publication title: A region on chromosome 16 is associated with Doberman Pinscher dilated cardiomyopathy.
- Species:
- dog
Plain-English summary
A group of Doberman Pinschers was studied to understand why they are more likely to develop dilated cardiomyopathy (DCM), a serious heart condition. Researchers looked at the genetic profiles of these dogs and found specific genetic markers on chromosome 16 that are linked to DCM. This information can help breeders and owners be more aware of the risks and potentially improve health monitoring for Dobermans. Understanding these genetic factors may lead to better prevention and treatment options for affected dogs in the future.
People also search for: Doberman Pinscher heart problems · dilated cardiomyopathy in dogs · genetic testing for Doberman heart disease
Abstract
Doberman Pinschers are known for their increased susceptibility to dilated cardiomyopathy (DCM) relative to other domestic dogs. This makes the Doberman Pinscher a key model for gene-disease investigations. We conducted a genome-wide association study (GWAS) leveraging a database of genetic profiles obtained through collaboration with the Doberman Diversity Project (DDP). We worked in parallel to increase the depth and power of the DDP database. We exchanged direct correspondences with listed breeders and owners to establish health updates for participant dogs. In total, our study included data on 216, 184 single nucleotide polymorphisms (SNPs) in 46 cases and 3226 population control Doberman Pinschers. Using a generalized linear mixed model and saddlepoint approximation to correct for unbalanced group sizes, we identified a cluster of SNPs associated with DCM on chromosome 16.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/39516562/