Prevalence of the E321G MYH1 variant for immune-mediated myositis and nonexertional rhabdomyolysis in performance subgroups of American Quarter Horses.
Abstract: Immune-mediated myositis (IMM) in American Quarter Horses (QHs) causes acute muscle atrophy and lymphocytic infiltration of myofibers. Recently, an E321G mutation in a highly conserved region of the myosin heavy chain 1 (MYH1) gene was associated with susceptibility to IMM and nonexertional rhabdomyolysis. Objective: To estimate prevalence of the E321G MYH1 variant in the QH breed and performance subgroups. Methods: Three-hundred seven elite performance QHs and 146 random registered QH controls. Methods: Prospective genetic survey. Elite QHs from barrel racing, cutting, halter, racing, reining, Western Pleasure, and working cow disciplines and randomly selected registered QHs were genotyped for the E321G MYH1 variant and allele frequencies were calculated. Results: The E321G MYH1 variant allele frequency was 0.034 ± 0.011 in the general QH population (6.8% of individuals in the breed) and the highest among the reining (0.135 ± 0.040; 24.3% of reiners), working cow (0.085 ± 0.031), and halter (0.080 ± 0.027) performance subgroups. The E321G MYH1 variant was present in cutting (0.044 ± 0.022) and Western Pleasure (0.021 ± 0.015) QHs at lower frequency and was not observed in barrel racing or racing QHs. Conclusions: Knowing that reining and working cow QHs have the highest prevalence of the E321G MYH1 variant and that the variant is more prevalent than the alleles for hereditary equine regional dermal asthenia and hyperkalemic periodic paralysis in the general QH population will guide the use of genetic testing for diagnostic and breeding purposes.
© 2019 The Authors. Journal of Veterinary Internal Medicine published by Wiley Periodicals, Inc. on behalf of the American College of Veterinary Internal Medicine.
Publication Date: 2019-01-08 PubMed ID: 30623495PubMed Central: PMC6430863DOI: 10.1111/jvim.15393Google Scholar: Lookup
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- Journal Article
Summary
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This research investigates the prevalence of the E321G MYH1 variant, which is associated with immune-mediated myositis (IMM) and nonexertional rhabdomyolysis, in the American Quarter Horse breed and its performance subgroups. The study found the E321G MYH1 variant to be most prevalent among reining, working cow, and halter performance subgroups.
Objective and Methodology of the Study
- The research looks at the prevalence of the E321G MYH1 gene variant in American Quarter Horses. This variant is associated with an increased susceptibility to immune-mediated myositis (IMM), a condition causing acute muscle atrophy with lymphocytic infiltration of myofibers, and nonexertional rhabdomyolysis.
- Using a sample of 307 elite performance Quarter Horses and 146 random registered Quarter Horse controls, the study conducted a prospective genetic survey to examine and estimate the prevalence of this variant.
- These horses were from different performance subgroups, such as barrel racing, cutting, halter, racing, reining, Western Pleasure, and working cow disciplines.
Findings of the Study
- The research identified that the E321G MYH1 variant allele frequency was 0.034 or 6.8% in the general Quarter Horse population. The frequency was at its highest among reining (0.135 or 24.3% of reiners), working cow (0.085), and halter (0.080) performance subgroups.
- The study also found that the E321G MYH1 variant was present in other subgroups such as cutting (0.044) and Western Pleasure (0.021) Quarter Horses at a lower frequency and was not observed in barrel racing or racing Quarter Horses.
Implication of Findings
- The findings are significant as they demonstrate that the E321G MYH1 variant is more prevalent than the alleles for hereditary equine regional dermal asthenia and hyperkalemic periodic paralysis in the general Quarter Horse population.
- Notably, it was also identified that the reining and working cow Quarter Horses held the highest prevalence of the E321G MYH1 variant.
- These research outcomes will guide the use of genetic testing for diagnostic and breeding purposes in the Quarter Horse industry. It is crucial for the industry to understand the genetic predisposition of performance subgroups to certain health conditions so they can better manage health outcomes and breeding methods.
Cite This Article
APA
Gianino GM, Valberg SJ, Perumbakkam S, Henry ML, Gardner K, Penedo C, Finno CJ.
(2019).
Prevalence of the E321G MYH1 variant for immune-mediated myositis and nonexertional rhabdomyolysis in performance subgroups of American Quarter Horses.
J Vet Intern Med, 33(2), 897-901.
https://doi.org/10.1111/jvim.15393 Publication
Researcher Affiliations
- Department of Population Health and Reproduction, School of Veterinary Medicine, University of California, Davis, California.
- Department of Large Animal Clinical Sciences, College of Veterinary Medicine, Michigan State University, East Lansing, Michigan.
- McPhail Equine Neuromuscular Diagnostic and Research Laboratory, McPhail Equine Performance Center, College of Veterinary Medicine, Michigan State University, East Lansing, Michigan.
- McPhail Equine Neuromuscular Diagnostic and Research Laboratory, McPhail Equine Performance Center, College of Veterinary Medicine, Michigan State University, East Lansing, Michigan.
- McPhail Equine Neuromuscular Diagnostic and Research Laboratory, McPhail Equine Performance Center, College of Veterinary Medicine, Michigan State University, East Lansing, Michigan.
- Service Department, Veterinary Genetics Lab (Penedo), University of California, Davis, California.
- Department of Population Health and Reproduction, School of Veterinary Medicine, University of California, Davis, California.
MeSH Terms
- Animals
- Breeding
- Female
- Gene Frequency
- Genetic Testing / veterinary
- Genotype
- Horse Diseases / genetics
- Horses
- Male
- Myosin Heavy Chains / genetics
- Myositis / genetics
- Myositis / veterinary
- Prospective Studies
- Rhabdomyolysis / genetics
- Rhabdomyolysis / veterinary
Grant Funding
- McPhail Endowment
- L40 TR001136 / NIH National Center Advancing Translational Sciences (NCATS)
- 1K01OD015134 / NIH Office of Research Infrastructure Programs (ORIP)
- 201603689 / American Quarter Horse Association
Conflict of Interest Statement
A patent exists for this genetic test in the horse (UC Davis/Michigan State University) WO2017165733A1. A percentage of the funds from this genetic test contribute to the research programs of Drs C. J. Finno and S. J. Valberg.
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