Evidence map›Paper›PMID 25670332›Full record

ArticleNeurobiology of aging2015

The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis.

Qiang Gang, Conceicao Bettencourt, Pedro M Machado, Zoe Fox, Stefen Brady, Estelle Healy, Matt Parton, Janice L Holton, David Hilton-Jones, Perry B Shieh and 15 more

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

Article in Neurobiology of aging, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
2.6field-weighted citation impact, top 10% 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

12 citing papers in PubMed, 20 citations in OpenAlex.

  1. Review
  2. Review
  3. Article
  4. Article
  5. Review
  6. Inclusion Body Myositis: Update on Pathogenesis and Treatment.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2018
    Review
  7. Update on Inclusion Body Myositis.Current rheumatology reports · 2018
    Review
  8. Review
  9. Genetics in inclusion body myositis.Current opinion in rheumatology · 2017
    Review
  10. Article
  11. Article
  12. Emerging therapeutic options for sporadic inclusion body myositis.Therapeutics and clinical risk management · 2015
    Review
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

25 authors at 10 institutions in 5 countries.

Qiang GangDepartment of Molecular Neuroscience, Institute of Neurology, University College London, London, UK; Medical Research Council Centre for Neuromuscular Diseases, Institute of Neurology, University College London, London, UK.
Conceicao BettencourtDepartment of Molecular Neuroscience, Institute of Neurology, University College London, London, UK.
Pedro M MachadoDepartment of Molecular Neuroscience, Institute of Neurology, University College London, London, UK; Medical Research Council Centre for Neuromuscular Diseases, Institute of Neurology, University College London, London, UK.
Zoe FoxBiomedical Research Centre, UCL and the Education Unit, Institute of Neurology, University College London, London, UK.
Stefen BradyMedical Research Council Centre for Neuromuscular Diseases, Institute of Neurology, University College London, London, UK; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
Estelle HealyMedical Research Council Centre for Neuromuscular Diseases, Institute of Neurology, University College London, London, UK.
Matt PartonMedical Research Council Centre for Neuromuscular Diseases, Institute of Neurology, University College London, London, UK.
Janice L HoltonMedical Research Council Centre for Neuromuscular Diseases, Institute of Neurology, University College London, London, UK.
David Hilton-JonesNuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
Perry B ShiehNeuromuscular Division, Department of Neurology, University of California, Los Angeles Medical Centre, Los Angeles, CA, USA.
Edmar ZanoteliDepartment of Neurology, Medical School of the University of São Paulo (FMUSP), São Paulo, Brazil.
Boel De PaepeDepartment of Neurology and Neuromuscular Reference Centre, Ghent University Hospital, Ghent, Belgium.
Jan De BleeckerDepartment of Neurology and Neuromuscular Reference Centre, Ghent University Hospital, Ghent, Belgium.
Aziz ShaibaniNerve and Muscle Centre of Texas, Houston, TX, USA.
Michela RipoloneNeuromuscular Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Centre, University of Milan, Milan, Italy.
Raffaella ViolanoNeuromuscular Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Centre, University of Milan, Milan, Italy.
Maurizio MoggioNeuromuscular Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Centre, University of Milan, Milan, Italy.
Richard J BarohnThe University of Kansas Medical Centre, Kansas City, USA.
Mazen M DimachkieThe University of Kansas Medical Centre, Kansas City, USA.
Marina MoraNeuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Isitituto Neurologico C. Besta, Milan, Italy.
Renato MantegazzaNeuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Isitituto Neurologico C. Besta, Milan, Italy.
Simona ZanottiNeuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Isitituto Neurologico C. Besta, Milan, Italy.
Michael G HannaDepartment of Molecular Neuroscience, Institute of Neurology, University College London, London, UK; Medical Research Council Centre for Neuromuscular Diseases, Institute of Neurology, University College London, London, UK.
Henry HouldenDepartment of Molecular Neuroscience, Institute of Neurology, University College London, London, UK; Medical Research Council Centre for Neuromuscular Diseases, Institute of Neurology, University College London, London, UK. Electronic address: h.houlden@ucl.ac.uk.
Muscle Study Group and the International IBM Genetics Consortium(#)
University College London · GBFondazione IRCCS Istituto Neurologico Carlo Besta · ITUniversity of Milan · ITGhent University Hospital · BEUniversity of Kansas Medical Center · USNuffield Orthopaedic Centre · GBUCL Biomedical Research Centre · GBUniversidade de São Paulo · BRUniversity of California, Los Angeles · USUniversity of Oxford · GB

Funding

EXPERIMENTAL THERAPEUTICS IN NEUROLOGICAL DISEASET32NS007338 · NINDS · UNIVERSITY OF ROCHESTER · PI ROBERT G. HOLLOWAY, Michael P McDermott · 1990 to 2026
$6.4M
Arthritis Research UK 18474Medical Research Council G0802760Medical Research Council G1001253Medical Research Council G108/638Medical Research Council MR/J004758/1Medical Research Council MR/K000608/01Medical Research Council MR/K000608/1Wellcome Trust
6 · The paper itself

Abstract

A previous study showed that, in carriers of the apolipoprotein E (APOE) genotype ε3/ε3 or ε3/ε4, the presence of a very long (VL) polyT repeat allele in "translocase of outer mitochondrial membrane 40" (TOMM40) was less frequent in patients with sporadic inclusion body myositis (sIBM) compared with controls and associated with a later age of sIBM symptom onset, suggesting a protective effect of this haplotype. To further investigate the influence of these genetic factors in sIBM, we analyzed a large sIBM cohort of 158 cases as part of an International sIBM Genetics Study. No significant association was found between APOE or TOMM40 genotypes and the risk of developing sIBM. We found that the presence of at least 1 VL polyT repeat allele in TOMM40 was significantly associated with about 4 years later onset of sIBM symptoms. The age of onset was delayed by 5 years when the patients were also carriers of the APOE genotype ε3/ε3. In addition, males were likely to have a later age of onset than females. Therefore, the TOMM40 VL polyT repeat, although not influencing disease susceptibility, has a disease-modifying effect on sIBM, which can be enhanced by the APOE genotype ε3/ε3.

Indexed as

Genetic Association StudiesGenotypeAgedAge of OnsetAllelesApolipoproteins ECohort StudiesFemaleHeterozygoteHumansIntronsMaleMembrane Transport ProteinsMiddle AgedMitochondrial Precursor Protein Import Complex ProteinsMyositis, Inclusion BodyApolipoproteins EMembrane Transport ProteinsMitochondrial Precursor Protein Import Complex ProteinsTOMM40 protein, humanAge of onsetAPOEsIBMSporadic inclusion body myositisTOMM40

Identifiers

PMID25670332
PMCPMC4378665
OpenAlexW2058502438

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Registered trials

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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.