ArticleHuman molecular genetics2023
Genome-wide association study identifies multiple HLA loci for sarcoidosis susceptibility.
Article in Human molecular genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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.
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.
Who cites it
14 citing papers in PubMed, 27 citations in OpenAlex.
- Treatable traits approach for personalised management of sarcoidosis.BMJ open respiratory research · 2026Review
- Diagnostic challenges in isolated cardiac sarcoidosis.ESC heart failure · 2026Review
- Article
- Integrated multi-omics analysis combined with clinical validation reveals that HLA-DRB5 and ODAPH are causal risk genes for keratoconus.Scientific reports · 2026Article
- Single cell transcriptome signatures and cell-cell interactions associated with sarcoidosis in lung immune cell populations.Frontiers in immunology · 2026Article
- Cardiac Sarcoidosis: Pathophysiology and Diagnostic-Therapeutic Processes.Reviews in cardiovascular medicine · 2026Review
- Neurosarcoidosis in Critical Care, Internal, and Pulmonary Medicine: A Practical Approach.Seminars in respiratory and critical care medicine · 2025Review
- Immunopathogenesis of Sarcoidosis.Seminars in respiratory and critical care medicine · 2025Review
- European-based polygenic risk score and genome-wide association study of B-cell non-Hodgkin lymphoma subtypes in Israeli Jews and Palestinian Arabs.British journal of haematology · 2025Article
- GWAS identifies genetic loci, lifestyle factors and circulating biomarkers that are risk factors for sarcoidosis.Nature communications · 2025Article
- Sarcoidosis: molecular mechanisms and therapeutic strategies.Molecular biomedicine · 2025Review
- Cardiac Sarcoidosis: Clinical Insights, Diagnosis, and Management Strategies.Reviews in cardiovascular medicine · 2025Review
- Genome and Transcriptome-Wide Association Study of Fibrotic Sarcoidosis in European Americans.American journal of respiratory and critical care medicine · 2024Article
- Examination of eQTL Polymorphisms Associated with Increased Risk of Progressive Complicated Sarcoidosis in European and African Descent Subjects.European journal of respiratory medicine · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
18 authors at 9 institutions in 1 country.
Funding
Abstract
Sarcoidosis is a complex systemic disease. Our study aimed to (1) identify novel alleles associated with sarcoidosis susceptibility; (2) provide an in-depth evaluation of HLA alleles and sarcoidosis susceptibility and (3) integrate genetic and transcription data to identify risk loci that may more directly impact disease pathogenesis. We report a genome-wide association study of 1335 sarcoidosis cases and 1264 controls of European descent (EA) and investigate associated alleles in a study of African Americans (AA: 1487 cases and 1504 controls). The EA and AA cohort was recruited from multiple United States sites. HLA alleles were imputed and tested for association with sarcoidosis susceptibility. Expression quantitative locus and colocalization analysis were performed using a subset of subjects with transcriptome data. Forty-nine SNPs in the HLA region in HLA-DRA, -DRB9, -DRB5, -DQA1 and BRD2 genes were significantly associated with sarcoidosis susceptibility in EA, rs3129888 was also a risk variant for sarcoidosis in AA. Classical HLA alleles DRB1*0101, DQA1*0101 and DQB1*0501, which are highly correlated, were also associated with sarcoidosis. rs3135287 near HLA-DRA was associated with HLA-DRA expression in peripheral blood mononuclear cells and bronchoalveolar lavage from subjects and lung tissue and whole blood from GTEx. We identified six novel SNPs (out of the seven SNPs representing the 49 significant SNPs) and nine HLA alleles associated with sarcoidosis susceptibility in the largest EA population. We also replicated our findings in an AA population. Our study reiterates the potential role of antigen recognition and/or presentation HLA class II genes in sarcoidosis pathogenesis.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.