Evidence map›Paper›PMID 41075949›Full record

ArticleGene2025

Genome-wide association study and HLA genotyping for beryllium disease susceptibility in a European descent population.

Shu-Yi Liao, Tasha E Fingerlin, Sean Jacobson, Margaret M Mroz, Kenneth D Rosenman, Milton D Rossman, MAbbas Virji, Erin C McCanlies, Christine R Schuler, Berran Yucesoy and 5 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Gene, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

15 authors.

Shu-Yi LiaoNational Jewish Health, Department of Medicine, Denver, CO 80206, USA; University of Colorado Anschutz Medical Campus, Department of Medicine, Aurora, CO 80045, USA; Colorado School of Public Health, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Tasha E FingerlinNational Jewish Health, Department of Medicine, Denver, CO 80206, USA; Colorado School of Public Health, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA; National Jewish Health, Department of Immunology and Genomic Medicine, Denver, CO 80206, USA.
Sean JacobsonNational Jewish Health, Department of Medicine, Denver, CO 80206, USA.
Margaret M MrozNational Jewish Health, Department of Medicine, Denver, CO 80206, USA.
Kenneth D RosenmanMichigan State University, East Lansing, MI 48824, USA.
Milton D RossmanPerelman School of Medicine, University of Pennsylvania, Department of Medicine, Philadelphia, PA 19104, USA.
MAbbas VirjiNational Institute for Occupational Safety and Health, Centers for Disease Control and Prevention, Morgantown, WV 26505, USA.
Erin C McCanliesNational Institute for Occupational Safety and Health, Centers for Disease Control and Prevention, Morgantown, WV 26505, USA.
Christine R SchulerNational Institute for Occupational Safety and Health, Centers for Disease Control and Prevention, Morgantown, WV 26505, USA.
Berran YucesoyNational Institute for Occupational Safety and Health, Centers for Disease Control and Prevention, Morgantown, WV 26505, USA.
Joseph GlessnerPerelman School of Medicine, University of Pennsylvania and The Children's Hospital of Philadelphia, Department of Pediatrics, Philadelphia, PA 19104, USA.
Jamie L DukeChildren's Hospital of Philadelphia, Department of Pathology & Laboratory Medicine, Philadelphia, PA 19104, USA.
Hakon HakonarsonPerelman School of Medicine, University of Pennsylvania and The Children's Hospital of Philadelphia, Department of Pediatrics, Philadelphia, PA 19104, USA.
Dimitri S MonosNational Jewish Health, Department of Medicine, Denver, CO 80206, USA; Children's Hospital of Philadelphia, Department of Pathology & Laboratory Medicine, Philadelphia, PA 19104, USA; Perelman School of Medicine, University of Pennsylvania, Department of Pathology & Laboratory Medicine, Philadelphia, PA 19104, USA.
Lisa A MaierNational Jewish Health, Department of Medicine, Denver, CO 80206, USA; University of Colorado Anschutz Medical Campus, Department of Medicine, Aurora, CO 80045, USA; Colorado School of Public Health, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA. Electronic address: MaierL@NJHealth.org.

Funding

Colorado Clinical and Translational Science Institute (UL1)UL1TR000154 · NCATS · UNIVERSITY OF COLORADO DENVER · PI SOKOL, RONALD J. · 2012 to 2013
$20.4M
T Cells in Beryllium Sensitization and DiseaseP01ES011810 · NIEHS · UNIVERSITY OF COLORADO DENVER · PI NEWMAN, LEE S · 2002 to 2013
$14.0M
Using Multi-Omics to Define Regulators and Drivers of Granulomatous Inflammation and Chronic Beryllium DiseaseR01ES033678 · NIEHS · NATIONAL JEWISH HEALTH · PI LISA A MAIER, Ivana V Yang · 2022 to 2026
$3.1M
NCATS NIH HHS UL1 TR000154NIEHS NIH HHS P01 ES011810NIEHS NIH HHS R01 ES033678
6 · The paper itself

Abstract

backgroundWorkplace exposure to beryllium can result in beryllium sensitization (BeS), a cell-mediated immune response that can progress to chronic beryllium disease (CBD), a granulomatous lung disease. DPB1-E69 is highly associated with CBD and BeS, although DRB1-E71 may also be a risk factor in the absence of DPB1-E69.

objectiveThis study 1) identified novel genetic variants associated with CBD/BeS using a genome-wide association study (GWAS) approach and 2) clarified the role of DRB1-E71 in conjunction with DPB1-E69.

methodsWe performed GWAS and HLA analysis on 1626 subjects with BeS, CBD and beryllium exposure without disease.

resultsWe found that rs1042140, the first base of the codon that encodes E69, was associated with CBD and BeS. We also found two single nucleotide polymorphisms (SNPs), rs56011217 and rs72636334, near SRIP1 on chromosome 4 associated with CBD and BeS independent of rs1042140. HLA alleles DRB1*04:04 (non E71) and DQB1*06:04 were significantly associated with CBD and BeS independent of rs1042140.

conclusionsWe found both DPB1-E69 and DRB1-E71 carriers have a higher risk of CBD or BeS both independently and jointly, with DPB1-E69 status having higher impact than DRB1-E71 status. DRB1-E71 also increases the risk in subjects without DPB1-E69. Our study also implies that beyond HLA, SRIP1 should be investigated in chronic beryllium disease pathogenesis.

Indexed as

BerylliosisGenetic Predisposition to DiseaseHLA-DP beta-ChainsHLA-DRB1 ChainsAdultAllelesBerylliumFemaleGenome-Wide Association StudyGenotypeHumansMaleMiddle AgedPolymorphism, Single NucleotideWhite PeopleBerylliumHLA-DPB1 antigenHLA-DP beta-ChainsHLA-DRB1 ChainsBeryllium sensitizationChronic beryllium diseaseGWASHLASNP

Identifiers

PMID41075949
PMCPMC12732325

What OpenQuestion holds

Textmetadata
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.