ArticleAmerican journal of respiratory and critical care medicine2015
Identification of Immune-Relevant Factors Conferring Sarcoidosis Genetic Risk.
Article in American journal of respiratory and critical care medicine, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 60 papers, 4 of them syntheses that pooled it.
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Who cites it
60 citing papers in PubMed, 4 syntheses or guidelines pooled it, 123 citations in OpenAlex.
- Genome-wide association for sarcoidosis identifies novel risk loci and genetic heritability in African and European ancestries: a meta-analysis from the Finngen, Million Veteran Program, UK Biobank, and Biobank Japan datasets.Orphanet journal of rare diseases · 2025Pooled it
- Causal Association and Shared Genetics Between Asthma and COVID-19.Frontiers in immunology · 2022Pooled it
- Genetic control of CCL24, POR, and IL23R contributes to the pathogenesis of sarcoidosis.Communications biology · 2020Pooled it
- Analysis of the common genetic component of large-vessel vasculitides through a meta-Immunochip strategy.Scientific reports · 2017Pooled it
- Trial
- Unveiling novel susceptibility genes for sarcoidosis by a cross-tissue transcriptome-wide association study.Sarcoidosis, vasculitis, and diffuse lung diseases : official journal of WASOG · 2026Article
- Ectopic co-expression of canonical and LINE1 and THE1A-exonizing IL23R transcripts in sarcoid myopathy.Journal of human genetics · 2026Article
- 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
- Inhibition of gastric adenocarcinoma proliferation by WSGC@MS: Role of KEAP1/NRF2 signaling pathway and autophagy regulation.Materials today. Bio · 2025Article
- GWAS identifies genetic loci, lifestyle factors and circulating biomarkers that are risk factors for sarcoidosis.Nature communications · 2025Article
- Phenotypes and Endotypes in Sarcoidosis: Unraveling Prognosis and Disease Course.Biomedicines · 2025Review
- Certolizumab-induced sarcoidosis in a patient with psoriatic arthritis - a case report and review of literature.Rheumatology international · 2024Review
- Genomic Profiling for Predictive Treatment Strategies in Fibrotic Interstitial Lung Disease.Biomedicines · 2024Review
- Review
- Immune mechanisms of granuloma formation in sarcoidosis and tuberculosis.The Journal of clinical investigation · 2024Review
- VISTA Deficiency Exacerbates the Development of Pulmonary Fibrosis by Promoting Th17 Differentiation.Journal of inflammation research · 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
- Qilongtian ameliorate bleomycin-induced pulmonary fibrosis in mice via inhibiting IL-17 signal pathway.Scientific reports · 2023Article
- FAM117B promotes gastric cancer growth and drug resistance by targeting the KEAP1/NRF2 signaling pathway.The Journal of clinical investigation · 2023Article
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Authors and funding
36 authors at 20 institutions in 9 countries.
Funding
Abstract
rationaleGenetic variation plays a significant role in the etiology of sarcoidosis. However, only a small fraction of its heritability has been explained so far.
objectivesTo define further genetic risk loci for sarcoidosis, we used the Immunochip for a candidate gene association study of immune-associated loci.
methodsAltogether the study population comprised over 19,000 individuals. In a two-stage design, 1,726 German sarcoidosis cases and 5,482 control subjects were genotyped for 128,705 single-nucleotide polymorphisms using the Illumina Immunochip for the screening step. The remaining 3,955 cases, 7,514 control subjects, and 684 parents of affected offspring were used for validation and replication of 44 candidate and two established risk single-nucleotide polymorphisms. MEASUREMENTS AND MAIN
resultsFour novel susceptibility loci were identified with genome-wide significance in the European case-control populations, located on chromosomes 12q24.12 (rs653178; ATXN2/SH2B3), 5q33.3 (rs4921492; IL12B), 4q24 (rs223498; MANBA/NFKB1), and 2q33.2 (rs6748088; FAM117B). We further defined three independent association signals in the HLA region with genome-wide significance, peaking in the BTNL2 promoter region (rs5007259), at HLA-B (rs4143332/HLA-B*0801) and at HLA-DPB1 (rs9277542), and found another novel independent signal near IL23R (rs12069782) on chromosome 1p31.3.
conclusionsFunctional predictions and protein network analyses suggest a prominent role of the drug-targetable IL23/Th17 signaling pathway in the genetic etiology of sarcoidosis. Our findings reveal a substantial genetic overlap of sarcoidosis with diverse immune-mediated inflammatory disorders, which could be of relevance for the clinical application of modern therapeutics.
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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.