A predictive model for canine dilated cardiomyopathy: a meta-analysis of Doberman Pinscher data

Dilated cardiomyopathy is a prevalent and often fatal disease in humans and dogs. Indeed dilated cardiomyopathy is the third most common form of cardiac disease in humans, reported to affect approximately 36 individuals per 100,000 individuals. In dogs, dilated cardiomyopathy is the second most comm...

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Main Authors: Simpson, Siobhan, Edwards, Jennifer, Emes, Richard D., Cobb, Malcolm A., Mongan, Nigel P., Rutland, Catrin S.
Format: Article
Published: PeerJ 2015
Subjects:
Online Access:https://eprints.nottingham.ac.uk/29470/
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author Simpson, Siobhan
Edwards, Jennifer
Emes, Richard D.
Cobb, Malcolm A.
Mongan, Nigel P.
Rutland, Catrin S.
author_facet Simpson, Siobhan
Edwards, Jennifer
Emes, Richard D.
Cobb, Malcolm A.
Mongan, Nigel P.
Rutland, Catrin S.
author_sort Simpson, Siobhan
building Nottingham Research Data Repository
collection Online Access
description Dilated cardiomyopathy is a prevalent and often fatal disease in humans and dogs. Indeed dilated cardiomyopathy is the third most common form of cardiac disease in humans, reported to affect approximately 36 individuals per 100,000 individuals. In dogs, dilated cardiomyopathy is the second most common cardiac disease and is most prevalent in the Irish Wolfhound, Doberman Pinscher and Newfoundland breeds. Dilated cardiomyopathy is characterised by ventricular chamber enlargement and systolic dysfunction which often leads to congestive heart failure. Although multiple human loci have been implicated in the pathogenesis of dilated cardiomyopathy, the identified variants are typically associated with rare monogenic forms of dilated cardiomyopathy. The potential for multigenic interactions contributing to human dilated cardiomyopathy remains poorly understood. Consistent with this, several known human dilated cardiomyopathy loci have been excluded as common causes of canine dilated cardiomyopathy, although canine dilated cardiomyopathy resembles the human disease functionally. This suggests additional genetic factors contribute to the dilated cardiomyopathy phenotype.This study represents a meta-analysis of available canine dilated cardiomyopathy genetic datasets with the goal of determining potential multigenic interactions relating the sex chromosome genotype (XX vs. XY) with known dilated cardiomyopathy associated loci on chromosome 5 and the PDK4 gene in the incidence and progression of dilated cardiomyopathy. The results show an interaction between known canine dilated cardiomyopathy loci and an unknown X-linked locus. Our study is the first to test a multigenic contribution to dilated cardiomyopathy and suggest a genetic basis for the known sex-disparity in dilated cardiomyopathy outcomes.
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spelling nottingham-294702020-05-04T17:04:01Z https://eprints.nottingham.ac.uk/29470/ A predictive model for canine dilated cardiomyopathy: a meta-analysis of Doberman Pinscher data Simpson, Siobhan Edwards, Jennifer Emes, Richard D. Cobb, Malcolm A. Mongan, Nigel P. Rutland, Catrin S. Dilated cardiomyopathy is a prevalent and often fatal disease in humans and dogs. Indeed dilated cardiomyopathy is the third most common form of cardiac disease in humans, reported to affect approximately 36 individuals per 100,000 individuals. In dogs, dilated cardiomyopathy is the second most common cardiac disease and is most prevalent in the Irish Wolfhound, Doberman Pinscher and Newfoundland breeds. Dilated cardiomyopathy is characterised by ventricular chamber enlargement and systolic dysfunction which often leads to congestive heart failure. Although multiple human loci have been implicated in the pathogenesis of dilated cardiomyopathy, the identified variants are typically associated with rare monogenic forms of dilated cardiomyopathy. The potential for multigenic interactions contributing to human dilated cardiomyopathy remains poorly understood. Consistent with this, several known human dilated cardiomyopathy loci have been excluded as common causes of canine dilated cardiomyopathy, although canine dilated cardiomyopathy resembles the human disease functionally. This suggests additional genetic factors contribute to the dilated cardiomyopathy phenotype.This study represents a meta-analysis of available canine dilated cardiomyopathy genetic datasets with the goal of determining potential multigenic interactions relating the sex chromosome genotype (XX vs. XY) with known dilated cardiomyopathy associated loci on chromosome 5 and the PDK4 gene in the incidence and progression of dilated cardiomyopathy. The results show an interaction between known canine dilated cardiomyopathy loci and an unknown X-linked locus. Our study is the first to test a multigenic contribution to dilated cardiomyopathy and suggest a genetic basis for the known sex-disparity in dilated cardiomyopathy outcomes. PeerJ 2015-03-26 Article PeerReviewed Simpson, Siobhan, Edwards, Jennifer, Emes, Richard D., Cobb, Malcolm A., Mongan, Nigel P. and Rutland, Catrin S. (2015) A predictive model for canine dilated cardiomyopathy: a meta-analysis of Doberman Pinscher data. PeerJ (e842). e842/1-e842/16. ISSN 2167-8359 Dilated cardiomyopathy PDK4 Canine Multigenic Human https://peerj.com/articles/842/ doi:10.7717/peerj.842 doi:10.7717/peerj.842
spellingShingle Dilated cardiomyopathy
PDK4
Canine
Multigenic
Human
Simpson, Siobhan
Edwards, Jennifer
Emes, Richard D.
Cobb, Malcolm A.
Mongan, Nigel P.
Rutland, Catrin S.
A predictive model for canine dilated cardiomyopathy: a meta-analysis of Doberman Pinscher data
title A predictive model for canine dilated cardiomyopathy: a meta-analysis of Doberman Pinscher data
title_full A predictive model for canine dilated cardiomyopathy: a meta-analysis of Doberman Pinscher data
title_fullStr A predictive model for canine dilated cardiomyopathy: a meta-analysis of Doberman Pinscher data
title_full_unstemmed A predictive model for canine dilated cardiomyopathy: a meta-analysis of Doberman Pinscher data
title_short A predictive model for canine dilated cardiomyopathy: a meta-analysis of Doberman Pinscher data
title_sort predictive model for canine dilated cardiomyopathy: a meta-analysis of doberman pinscher data
topic Dilated cardiomyopathy
PDK4
Canine
Multigenic
Human
url https://eprints.nottingham.ac.uk/29470/
https://eprints.nottingham.ac.uk/29470/
https://eprints.nottingham.ac.uk/29470/