Evidence map›Paper›PMID 40744770›Full record

ArticleAnnals of the rheumatic diseases2025

HLA loci heterozygosity modulates genetic risk in idiopathic inflammatory myopathies.

Gang Chen, Catherine Zhu, Hector Chinoy, Christopher I Amos, Andrew P Morris, Janine A Lamb, International Myositis Assessment & Clinical Studies Group (IMACS) Myositis Genetics Scientific Interest Group (MYOGEN)

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Annals of the rheumatic diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

1 citing paper in PubMed.

  1. 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

7 authors.

Gang ChenEpidemiology and Public Health Group, School of Health Sciences, The University of Manchester, Manchester, UK.
Catherine ZhuInstitute for Clinical and Translational Research, Baylor College of Medicine, Houston, TX, USA.
Hector ChinoyCentre for Musculoskeletal Research, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK; NIHR Manchester Biomedical Research Centre, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK; Department of Rheumatology, Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester Academic Health Science Centre, Salford, UK.
Christopher I AmosInstitute for Clinical and Translational Research, Baylor College of Medicine, Houston, TX, USA; Epidemiology and Population Sciences, Department of Medicine, Baylor College of Medicine, Houston, TX, USA; Dan L Duncan Comprehensive Cancer Center, Baylor College of Medicine, Houston, TX, USA.
Andrew P MorrisCentre for Musculoskeletal Research, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK; NIHR Manchester Biomedical Research Centre, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.
Janine A LambEpidemiology and Public Health Group, School of Health Sciences, The University of Manchester, Manchester, UK. Electronic address: janine.lamb@manchester.ac.uk.
International Myositis Assessment & Clinical Studies Group (IMACS) Myositis Genetics Scientific Interest Group (MYOGEN)

Funding

Environmental/genetic Risk Factors and Pathogenesis of Autoimmune DiseaseZIAES101074 · NIEHS · NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES · PI RIDER, LISA · 2009 to 2025
$34.6M
Intramural NIH HHS ZIA ES101074Wellcome Trust
6 · The paper itself

Abstract

objectivesIdiopathic inflammatory myopathies (IIMs) are rare autoimmune disorders. Genetic association studies have highlighted the role of human leukocyte antigen (HLA) polymorphisms in IIM. We aimed to characterise the nonadditive effects (dominance and interaction) of HLA alleles on IIM risk.

methodsThis study included a total of 3206 IIM cases and 11,697 controls of European ancestry. HLA alleles were imputed using a multiancestry HLA reference panel. Logistic regressions were conducted to estimate the nonadditive effects of HLA alleles. Clinical subgroup analysis, calculation of phenotypic variance explained, and stepwise conditional analyses were conducted to further characterise these effects.

resultsWe identified significant nonadditive effects in 5 HLA genes, particularly in the core alleles of ancestral haplotype 8.1 (8.1 AH), including HLA-B*08:01 (P = 3.93 × 10

conclusionsThis study identified significant nonadditive effects within the HLA region of IIM. A genetic risk model including nonadditive effects could provide more accurate individual risk estimates. These findings highlight a complex role of HLA heterozygosity in the development of IIM and support further research into HLA nonadditive effects with clinical relevance.

Indexed as

HLA AntigensMyositisAdultAllelesCase-Control StudiesFemaleGenetic Predisposition to DiseaseHaplotypesHeterozygoteHLA-DQ alpha-ChainsHLA-DRB1 ChainsHumansMaleMiddle AgedWhite PeopleHLA AntigensHLA-DQA1 antigenHLA-DQ alpha-ChainsHLA-DRB1 Chains

Identifiers

PMID40744770
PMCPMC12380519

What Socratic 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 Socratic graph.