Key result
Chromosome 16 SNP cluster linked to DCM in Doberman Pinschers.
Why the study?
Doberman Pinschers have an increased susceptibility to dilated cardiomyopathy relative to other domestic dogs, making them a key model for gene-disease investigations.
Case-Control (n=3,272)
Does not yet alter screening or breeding in Dobermans; leaves open independent replication and functional validation of the locus.
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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Polenberg et al. (2024) conducted a case-control in Dilated cardiomyopathy (DCM) (n=3,272). Single nucleotide polymorphisms (SNPs) on chromosome 16 vs. Population controls was evaluated on Dilated cardiomyopathy. A genome-wide association study of 3,272 Doberman Pinschers (46 cases, 3,226 controls) identified a cluster of SNPs on chromosome 16 associated with dilated cardiomyopathy.
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