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How a heart gene variant affects lifespan in Schnauzer dogs

By Leach, S B et al.·Published in Journal of veterinary cardiology : the official journal of the European Society of Veterinary Cardiology·2022·Department of Small Animal Medicine and Surgery, United States·View original on PubMed

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Original publication title: Prevalence, geographic distribution, and impact on lifespan of a dilated cardiomyopathy-associated RNA-binding motif protein 20 variant in genotyped dogs.

Species:
dog

Plain-English summary

A study found that a specific genetic variant linked to dilated cardiomyopathy (DCM) was present in Standard Schnauzers and Giant Schnauzers. In Standard Schnauzers, about 21% carried this variant, and those with two copies of the variant had a significantly shorter lifespan, averaging just over 3 years, compared to 15 years for those with one or no copies. The research highlights the importance of genetic testing for these breeds, as early detection of the variant can help owners manage their dogs' health better.

People also search for: Standard Schnauzer heart problems · Giant Schnauzer DCM symptoms · dog genetic testing for heart disease

Abstract

INTRODUCTION: The study objectives were to determine the prevalence and geographic distribution of a dilated cardiomyopathy (DCM)-associated RNA-binding motif protein 20 (RBM20) variant in canine DNA samples submitted for testing and to evaluate the influence of the genotype on cardiac phenotype and lifespan. ANIMALS: Samples from 2136 dogs including 1834 Standard Schnauzers (SSNZ), 266 Giant Schnauzers (GSNZ), and 36 dogs of other breeds. METHODS: The University of Missouri Canine Genetics Laboratory's sample-accession spreadsheet and Orthopedic Foundation for Animals' database were retrospectively reviewed for samples submitted for RBM20 genotyping from November, 2013, through May, 2018. Data analyzed included breed, date of birth, RBM20 genotype (homozygous wild-type, heterozygous variant [HET], or homozygous variant [HOM]), geographic origin of submission, pedigree, cardiac phenotype, and date of death or current age if alive. RESULTS AND DISCUSSION: The RBM20 variant was only detected in SSNZ and GSNZ. A total of 389 SSNZ were variant-positive (prevalence = 21.2%), with 361 HET (19.7%) and 28 HOM (1.5%). Of the HOM SSNZ, DCM was confirmed in 26 of 28 (92.9%), with the remainder lost to follow-up. The median lifespan of HOM SSNZ (3.06 years) was significantly shorter than that for HET (15.11 years) and wild-type (15.18 years) SSNZ. Twenty-six GSNZ were variant-positive (prevalence = 9.8%), with 23 HET (8.6%) and three HOM (1.1%). Nine GSNZ belonged to one family, including the three HOM GSNZ that all had DCM. CONCLUSIONS: The HOM genotype is associated with DCM and premature death in SSNZ and GSNZ.

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Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/34144877/