Evidence map›Paper›PMID 29611059›Full record

ReviewCurrent rheumatology reports2018

New Developments in the Genetics of Inclusion Body Myositis.

Kyla A Britson, Stephanie Y Yang, Thomas E Lloyd

Abstract readReview
In one paragraph

Review in Current rheumatology reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed, 1 pooled it
1.5field-weighted citation impact, top 18% 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, 1 synthesis or guideline pooled it, 21 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. Article
  4. Seeding competent TDP-43 persists in human patient and mouse muscle.bioRxiv : the preprint server for biology · 2024
    Article
  5. Protein Aggregates and Aggrephagy in Myopathies.International journal of molecular sciences · 2023
    Review
  6. Review
  7. Inclusion Body Myositis and Neoplasia: A Narrative Review.International journal of molecular sciences · 2022
    Review
  8. Article
  9. Review
  10. Review
  11. Review
  12. 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

3 authors at 2 institutions in 1 country.

Kyla A BritsonDepartments of Neurology and Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Stephanie Y YangDepartments of Neurology and Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Thomas E LloydDepartments of Neurology and Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD, USA. tlloyd4@jhmi.edu.
Johns Hopkins University · USJohns Hopkins Medicine · US

Funding

Predoctoral Training Program in Human GeneticsT32GM007814 · NIGMS · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 1985 to 2021
$10.6M
NIGMS NIH HHS T32 GM007814
6 · The paper itself

Abstract

purpose of reviewOur goal is to review the recent literature pertaining to the genetics of sporadic inclusion body myositis (IBM). RECENT

findingsIn a study of 252 IBM patients, the class II MHC allele HLA-DRB1*03:01 showed the most significant association with IBM, and that risk could be largely attributed to amino acids within the peptide-binding pocket. Candidate gene sequencing identified rare missense variants in proteins regulating protein homeostasis including VCP and SQSTM1. An unbiased approach employing exome sequencing of genes encoding rimmed vacuole proteins identified FYCO1 variants in IBM. Ongoing GWAS approaches may shed new light on genetic risk factors for IBM. Many variants have been reported at an increased frequency in IBM in small studies; however, only HLA association has shown genome-wide significance. Future studies are needed to validate variants in larger cohorts and to understand the molecular roles these risk factors play in IBM.

Indexed as

Genetic Predisposition to DiseaseGenetic TherapyHLA AntigensHLA-DRB1 ChainsHumansMitochondria, MuscleMyositis, Inclusion BodyProteostasisHLA AntigensHLA-DRB1 ChainsFollistatinFYCO1HLAInclusion body myositisSQSTM1VCP

Identifiers

PMID29611059
PMCPMC6374100
OpenAlexW2795445824

What OpenQuestion holds

Textmetadata
LicenceTDM
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.