ArticlePloS one2012
Genome-wide association study of African and European Americans implicates multiple shared and ethnic specific loci in sarcoidosis susceptibility.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 64 papers, 2 of them syntheses that pooled it.
What it found
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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
64 citing papers in PubMed, 2 syntheses or guidelines pooled it, 122 citations in OpenAlex.
- Pooled it
- Pooled it
- Sarcoidosis extent relates to molecular variability.Clinical and experimental immunology · 2017Trial
- Replication of genetic loci for sarcoidosis in US black women: data from the Black Women's Health Study.Human genetics · 2013Trial
- [Clinical features and prognosis of sarcoidosis with ocular lesions as the initial manifestation].Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences · 2025Article
- Neurosarcoidosis in Critical Care, Internal, and Pulmonary Medicine: A Practical Approach.Seminars in respiratory and critical care medicine · 2025Review
- GWAS identifies genetic loci, lifestyle factors and circulating biomarkers that are risk factors for sarcoidosis.Nature communications · 2025Article
- Inclusivity in Research Matters: Variants inAmerican 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
- Genome-wide association study identifies multiple HLA loci for sarcoidosis susceptibility.Human molecular genetics · 2023Article
- Article
- Sarcoidosis and Autoimmune Inflammatory Syndrome Induced by Adjuvants.Life (Basel, Switzerland) · 2023Review
- Race/ethnicity-stratified fine-mapping of the MHC locus reveals genetic variants associated with late-onset asthma.Frontiers in genetics · 2023Article
- Sex differences in the genetics of sarcoidosis across European and African ancestry populations.Frontiers in medicine · 2023Article
- Genetics of neurosarcoidosis.Journal of neuroimmunology · 2022Review
- Novel HLA associations with outcomes of Mycobacterium tuberculosis exposure and sarcoidosis in individuals of African ancestry using nearest-neighbor feature selection.Genetic epidemiology · 2022Article
- Progress in the genetics of uveitis.Genes and immunity · 2022Review
- Biochemical and genomic identification of novel biomarkers in progressive sarcoidosis: HBEGF, eNAMPT, and ANG-2.Frontiers in medicine · 2022Article
- Offense and Defense in Granulomatous Inflammation Disease.Frontiers in cellular and infection microbiology · 2022Review
- Epigenetics and sarcoidosis.European respiratory review : an official journal of the European Respiratory Society · 2021Review
4 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
16 authors at 7 institutions in 1 country.
Funding
Abstract
Sarcoidosis is a systemic inflammatory disease characterized by the formation of granulomas in affected organs. Genome-wide association studies (GWASs) of this disease have been conducted only in European population. We present the first sarcoidosis GWAS in African Americans (AAs, 818 cases and 1,088 related controls) followed by replication in independent sets of AAs (455 cases and 557 controls) and European Americans (EAs, 442 cases and 2,284 controls). We evaluated >6 million SNPs either genotyped using the Illumina Omni1-Quad array or imputed from the 1000 Genomes Project data. We identified a novel sarcoidosis-associated locus, NOTCH4, that reached genome-wide significance in the combined AA samples (rs715299, P(AA-meta) = 6.51 × 10(-10)) and demonstrated the independence of this locus from others in the MHC region in the same sample. We replicated previous European GWAS associations within HLA-DRA, HLA-DRB5, HLA-DRB1, BTNL2, and ANXA11 in both our AA and EA datasets. We also confirmed significant associations to the previously reported HLA-C and HLA-B regions in the EA but not AA samples. We further identified suggestive associations with several other genes previously reported in lung or inflammatory diseases.
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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.