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      Prevalence of the E321G MYH1 variant for immune‐mediated myositis and nonexertional rhabdomyolysis in performance subgroups of American Quarter Horses

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          Abstract

          Background

          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.

          Objectives

          To estimate prevalence of the E321G MYH1 variant in the QH breed and performance subgroups.

          Animals

          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 and Clinical Importance

          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.

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          Most cited references 12

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          Periodic paralysis in quarter horses: a sodium channel mutation disseminated by selective breeding.

          We recently reported on a linkage study within a Quarter Horse lineage segregating hyperkalaemic periodic paralysis (HYPP), an autosomal dominant condition showing potassium-induced attacks of skeletal muscle paralysis. HYPP co-segregated with the equine adult skeletal muscle sodium channel alpha subunit gene, the same gene that causes human HYPP. We now describe the Phe to Leu mutation in transmembrane domain IVS3 which courses the horse disease. This represents the first application of molecular genetics to an important horse disease, and the data will provide an opportunity for control or eradication of this condition.
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            Evaluation of allele frequencies of inherited disease genes in subgroups of American Quarter Horses.

            To estimate allele frequencies of the hyperkalaemic periodic paralysis (HYPP), lethal white foal syndrome (LWFS), glycogen branching enzyme deficiency (GBED), hereditary equine regional dermal asthenia (HERDA), and type 1 polysaccharide storage myopathy (PSSM) genes in elite performance subgroups of American Quarter Horses (AQHs). Prospective genetic survey. 651 elite performance AQHs, 200 control AQHs, and 180 control American Paint Horses (APHs). Elite performance AQHs successful in 7 competitive disciplines (barrel racing, cutting, halter, racing, reining, western pleasure, and working cow horse) were geno- typed for 5 disease-causing alleles. Age-matched control AQHs and APHs were used to establish comparative whole-breed estimates of allele frequencies. Highest allele frequencies among control AQHs were for type 1 PSSM (0.055) and GBED (0.054), whereas HERDA (0.021) and HYPP (0.008) were less prevalent. Control APHs uniquely harbored LWFS (0.107) and had high prevalence of HYPP (0.025), relative to AQHs. Halter horse subgroups had significantly greater allele frequencies for HYPP (0.299) and PSSM (0.155). Glycogen branching enzyme deficiency, HERDA, and PSSM were found broadly throughout subgroups; cutting subgroups were distinct for HERDA (0.142), and western pleasure subgroups were distinct for GBED (0.132). Racing and barrel racing subgroups had the lowest frequencies of the 5 disease genes. Accurate estimates of disease-causing alleles in AQHs and APHs may guide use of diagnostic genetic testing, aid management of genetic diseases, and help minimize production of affected foals.
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              Suspected immune-mediated myositis in horses.

              Although immune-mediated myositis (IMM) is commonly reported in other species, this condition is poorly described in horses.
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                Author and article information

                Contributors
                cjfinno@ucdavis.edu
                Journal
                J Vet Intern Med
                J. Vet. Intern. Med
                10.1111/(ISSN)1939-1676
                JVIM
                Journal of Veterinary Internal Medicine
                John Wiley & Sons, Inc. (Hoboken, USA )
                0891-6640
                1939-1676
                08 January 2019
                Mar-Apr 2019
                : 33
                : 2 ( doiID: 10.1111/jvim.2019.33.issue-2 )
                : 897-901
                Affiliations
                [ 1 ] Department of Population Health and Reproduction School of Veterinary Medicine, University of California Davis California
                [ 2 ] Department of Large Animal Clinical Sciences College of Veterinary Medicine, Michigan State University East Lansing Michigan
                [ 3 ] McPhail Equine Neuromuscular Diagnostic and Research Laboratory, McPhail Equine Performance Center College of Veterinary Medicine, Michigan State University East Lansing Michigan
                [ 4 ] Service Department, Veterinary Genetics Lab (Penedo) University of California Davis California
                Author notes
                [* ] Correspondence

                Carrie J. Finno, Department of Population Health and Reproduction, UC Davis School of Veterinary Medicine, Room 4206 Vet Med 3A, One Shields Ave, Davis, CA 95616.

                Email: cjfinno@ 123456ucdavis.edu

                Article
                JVIM15393
                10.1111/jvim.15393
                6430863
                30623495
                © 2019 The Authors. Journal of Veterinary Internal Medicine published by Wiley Periodicals, Inc. on behalf of the American College of Veterinary Internal Medicine.

                This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.

                Page count
                Figures: 1, Tables: 1, Pages: 5, Words: 3774
                Product
                Funding
                Funded by: McPhail Endowment
                Funded by: NIH National Center Advancing Translational Sciences (NCATS)
                Award ID: L40 TR001136
                Funded by: NIH Office of Research Infrastructure Programs (ORIP)
                Award ID: 1K01OD015134
                Funded by: American Quarter Horse Association
                Award ID: 201603689
                Categories
                Standard Article
                EQUID
                Standard Articles
                Immunology
                Custom metadata
                2.0
                jvim15393
                March/April 2019
                Converter:WILEY_ML3GV2_TO_NLMPMC version:5.6.1 mode:remove_FC converted:23.03.2019

                Veterinary medicine

                equine, genetics, muscle, myh1, myosin heavy chain 1

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