ArticleProceedings of the National Academy of Sciences of the United States of America2014
Behçet disease-associated MHC class I residues implicate antigen binding and regulation of cell-mediated cytotoxicity.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 78 papers, 4 of them syntheses that pooled it.
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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.
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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.
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Who cites it
78 citing papers in PubMed, 4 syntheses or guidelines pooled it, 140 citations in OpenAlex.
- Behçet's Disease: A Comprehensive Review on the Role ofInternational journal of molecular sciences · 2023Pooled it
- Sex-specific analysis in Behçet's disease reveals higher genetic risk in male patients.Journal of autoimmunity · 2022Pooled it
- Global Meta-Analysis on the Association between Behcet Syndrome and Polymorphisms from the HLA Class I (A, B, and C) and Class II (DRB1, DQB1, and DPB1) Genes.Disease markers · 2021Pooled it
- Association between Functional MICA-TM and Behcet's Disease: A Systematic Review and Meta-analysis.Scientific reports · 2016Pooled it
- The MHC-I-opathy architecture: immunogenetic and biomechanical determinants of disease expression.Zeitschrift fur Rheumatologie · 2026Review
- Clinical and therapeutic implications of HLAB51-negative status in Pediatric Behçet's Disease.Clinics (Sao Paulo, Brazil) · 2026Article
- [Role of HLA genetic variants in autoimmune diseases].Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2026Review
- Casting light on the potential connection: exploring the relationship between periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome and Behҫet in the Druze population in Israel.Orphanet journal of rare diseases · 2026Article
- Management of Severe Behçet's Disease.Current rheumatology reports · 2026Review
- Systematic profiling of SARS-CoV-2 structural protein-specific T cell epitopes in Omicron infections following inactivated vaccination.iScience · 2026Article
- Increased vein wall thickness in Behçet's disease: from intravascular mechanical stress to vascular remodelling and venous thrombosis.Rheumatology international · 2026Review
- The Role of Viral and Bacterial Infections in the Etiology of Behçet's Disease.Journal of clinical laboratory analysis · 2026Review
- Integrated stress response in Behçet disease: expression analyses in peripheral blood and synovial monocytes.Rheumatology international · 2025Article
- Molecular characterization of the archaic HLA-B∗73:01 allele reveals presentation of a unique peptidome and skewed engagement by KIR2DL2.The Journal of biological chemistry · 2025Article
- Genetic predisposition to Behcet's disease mediated by a IL10RA enhancer polymorphism.Heliyon · 2025Article
- Decoding Behcet's Uveitis: an In-depth review of pathogenesis and therapeutic advances.Journal of neuroinflammation · 2024Review
- Novel genetic variants of HLA gene associated with Thai Behcet's disease (BD) patients using next generation sequencing technology.Scientific reports · 2024Article
- The roles of immune cells in Behçet's disease.Advances in rheumatology (London, England) · 2023Review
- EULAR study group on 'MHC-I-opathy': identifying disease-overarching mechanisms across disciplines and borders.Annals of the rheumatic diseases · 2023Review
- Challenges in the Timely Diagnosis of Behcet's Disease.Life (Basel, Switzerland) · 2023Review
18 more citing papers are in PubMed but not listed here.
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Authors and funding
6 authors at 5 institutions in 4 countries.
Funding
Abstract
The HLA protein, HLA-B*51, encoded by HLA-B in MHC, is the strongest known genetic risk factor for Behçet disease (BD). Associations between BD and other factors within the MHC have been reported also, although strong regional linkage disequilibrium complicates their confident disentanglement from HLA-B*51. In the current study, we examined a combination of directly obtained and imputed MHC-region SNPs, directly obtained HLA-B locus types, and imputed classical HLA types with their corresponding polymorphic amino acid residues for association with BD in 1,190 cases and 1,257 controls. SNP mapping with logistic regression of the MHC identified the HLA-B/MICA region and the region between HLA-F and HLA-A as independently associated with BD (P < 1.7 × 10(-8)). HLA-B*51, -A*03, -B*15, -B*27, -B*49, -B*57, and -A*26 each contributed independently to BD risk. We directly examined rs116799036, a noncoding SNP upstream of HLA-B that was recently suggested to underlie the association of HLA-B*51 with BD, but we were unable to replicate that finding in our collection. Instead, we mapped the BD association to seven MHC class I (MHC-I) amino acid residues, including anchor residues that critically define the selection and binding of peptides to MHC-I molecules, residues known to influence MHC-I-killer immunoglobulin-like receptor interactions, and a residue located in the signal peptide of HLA-B. The locations of these variants collectively implicate MHC-I peptide binding in the pathophysiology of BD. Furthermore, several lines of evidence suggest a role for altered regulation of cellular cytotoxicity in BD pathogenesis.
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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.