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A missense mutation in MYH1 is associated with susceptibility to immune-mediated myositis in Quarter Horses.

ABSTRACT: BACKGROUND:The cause of immune-mediated myositis (IMM), characterized by recurrent, rapid-onset muscle atrophy in Quarter Horses (QH), is unknown. The histopathologic hallmark of IMM is lymphocytic infiltration of myofibers. The purpose of this study was to identify putative functional variants associated with equine IMM. METHODS:A genome-wide association (GWA) study was performed on 36 IMM QHs and 54 breed matched unaffected QHs from the same environment using the Equine SNP50 and SNP70 genotyping arrays. RESULTS:A mixed model analysis identified nine SNPs within a ~?2.87 Mb region on chr11 that were significantly (Punadjusted?

SUBMITTER: Finno CJ

PROVIDER: S-EPMC5838957 | biostudies-literature | 2018 Mar

REPOSITORIES: biostudies-literature

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A missense mutation in MYH1 is associated with susceptibility to immune-mediated myositis in Quarter Horses.

Finno Carrie J CJ Gianino Giuliana G Perumbakkam Sudeep S Williams Zoë J ZJ Bordbari Matthew H MH Gardner Keri L KL Burns Erin E Peng Sichong S Durward-Akhurst Sian A SA Valberg Stephanie J SJ

Skeletal muscle 20180306 1

<h4>Background</h4>The cause of immune-mediated myositis (IMM), characterized by recurrent, rapid-onset muscle atrophy in Quarter Horses (QH), is unknown. The histopathologic hallmark of IMM is lymphocytic infiltration of myofibers. The purpose of this study was to identify putative functional variants associated with equine IMM.<h4>Methods</h4>A genome-wide association (GWA) study was performed on 36 IMM QHs and 54 breed matched unaffected QHs from the same environment using the Equine SNP50 an ...[more]

PMID: 29510741

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