A region on chromosome 16 is associated with Doberman Pinscher dilated cardiomyopathy

Alex Polenberg; Chad Grueter; Terry Braun; Colleen Mitchell

doi:10.1038/s41598-024-78511-2

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A region on chromosome 16 is associated with Doberman Pinscher dilated cardiomyopathy

Journal article

Open access

Peer reviewed

A region on chromosome 16 is associated with Doberman Pinscher dilated cardiomyopathy

Alex Polenberg, Chad Grueter, Terry Braun and Colleen Mitchell

Scientific reports, Vol.14(1), 27241

11/08/2024

DOI: 10.1038/s41598-024-78511-2

PMCID: PMC11549079

PMID: 39516562

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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.

631/208/1348

631/208/205

639/705/1042

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Humanities and Social Sciences

multidisciplinary

Science

Science (multidisciplinary)

Details

Title: Subtitle: A region on chromosome 16 is associated with Doberman Pinscher dilated cardiomyopathy
Creators: Alex Polenberg - University of Iowa
Chad Grueter - University of Iowa
Terry Braun - University of Iowa
Colleen Mitchell - University of Iowa
Resource Type: Journal article
Publication Details: Scientific reports, Vol.14(1), 27241
DOI: 10.1038/s41598-024-78511-2
PMID: 39516562
PMCID: PMC11549079
NLM abbreviation: Sci Rep
ISSN: 2045-2322
eISSN: 2045-2322
Publisher: Nature Publishing Group UK
Grant note: Doberman Pinscher Club of America
The authors acknowledge and thank the many breeders and owners who participated by sharing the data analyzed throughout. We thank the Doberman Pinscher Club of America for their support and the Doberman Diversity Project for providing access to their database of participant data.
Language: English
Date published: 11/08/2024
Academic Unit: Roy J. Carver Department of Biomedical Engineering; Cardiovascular Medicine; Craniofacial Anomalies Research Center; Mathematics; Internal Medicine
Record Identifier: 9984743402402771

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