Evidence map›Paper›PMID 29510741›Full record

ArticleSkeletal muscle2018

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

Carrie J Finno, Giuliana Gianino, Sudeep Perumbakkam, Zoë J Williams, Matthew H Bordbari, Keri L Gardner, Erin Burns, Sichong Peng, Sian A Durward-Akhurst, Stephanie J Valberg

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Skeletal muscle, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.

0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed
3.2field-weighted citation impact, top 8% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

16 citing papers in PubMed, 50 citations in OpenAlex.

  1. Article
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  4. Article
  5. Myosin Heavy Chain Myopathy and Immune-Mediated Muscle Disorders.The Veterinary clinics of North America. Equine practice · 2025
    Review
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  16. A survey of transcriptome complexity in Sus scrofa using single-molecule long-read sequencing.DNA research : an international journal for rapid publication of reports on genes and genomes · 2018
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors at 3 institutions in 1 country.

Carrie J FinnoDepartment of Population Health and Reproduction, University of California, Davis SVM, Room 4206 Vet Med 3A, One Shields Ave, Davis, CA, 95616, USA. cjfinno@ucdavis.edu.
Giuliana GianinoDepartment of Population Health and Reproduction, University of California, Davis SVM, Room 4206 Vet Med 3A, One Shields Ave, Davis, CA, 95616, USA.
Sudeep PerumbakkamDepartment of Large Animal Clinical Sciences, Michigan State University, East Lansing, MI, 48824, USA.
Zoë J WilliamsDepartment of Large Animal Clinical Sciences, Michigan State University, East Lansing, MI, 48824, USA.
Matthew H BordbariDepartment of Population Health and Reproduction, University of California, Davis SVM, Room 4206 Vet Med 3A, One Shields Ave, Davis, CA, 95616, USA.
Keri L GardnerDepartment of Large Animal Clinical Sciences, Michigan State University, East Lansing, MI, 48824, USA.
Erin BurnsDepartment of Population Health and Reproduction, University of California, Davis SVM, Room 4206 Vet Med 3A, One Shields Ave, Davis, CA, 95616, USA.
Sichong PengDepartment of Population Health and Reproduction, University of California, Davis SVM, Room 4206 Vet Med 3A, One Shields Ave, Davis, CA, 95616, USA.
Sian A Durward-AkhurstDepartment of Veterinary Population Medicine, College of Veterinary Medicine, University of Minnesota, St. Paul, MN, 55108, USA.
Stephanie J ValbergDepartment of Large Animal Clinical Sciences, Michigan State University, East Lansing, MI, 48824, USA.
University of California, Davis · USMichigan State University · USUniversity of Minnesota · US

Funding

Molecular pathogenesis of alpha-tocopherol associated neuroaxonal dystrophy in anK01OD015134 · OD · UNIVERSITY OF MINNESOTA · PI FINNO, CARRIE · 2013 to 2017
$599k
National Institute of Food and Agriculture 20143842021796NCATS NIH HHS L40 TR001136NIH HHS K01 OD015134NIH HHS K01OD015134NIH HHS L40 TR001136
6 · The paper itself

Abstract

backgroundThe 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.

methodsA 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.

resultsA mixed model analysis identified nine SNPs within a ~ 2.87 Mb region on chr11 that were significantly (P

conclusionsWe conclude that a mutation in MYH1 is highly associated with susceptibility to the IMM phenotype in QH-related breeds. This is the first report of a mutation in MYH1 and the first link between a skeletal muscle myosin mutation and autoimmune disease.

Indexed as

Mutation, MissenseAmino Acid SequenceAnimalsAutoimmune DiseasesFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHaplotypesHorse DiseasesHorsesMaleMuscle Fibers, SkeletalMyosin Heavy ChainsMyositisPedigreeMyosin Heavy ChainsEquineGenome-wide associationImmunologyMyopathyMyosin heavy chain 1

Identifiers

PMID29510741
PMCPMC5838957
OpenAlexW2799736675

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.