ArticlePloS one2016
Genetic Analysis with the Immunochip Platform in Behçet Disease. Identification of Residues Associated in the HLA Class I Region and New Susceptibility Loci.
Article in PloS one, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 5 of them syntheses that pooled it.
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Who cites it
32 citing papers in PubMed, 5 syntheses or guidelines pooled it, 66 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
- Genome-wide association study revealed novel loci which aggravate asymptomatic hyperuricaemia into gout.Annals of the rheumatic diseases · 2019Pooled it
- Cross-phenotype analysis of Immunochip data identifiesAnnals of the rheumatic diseases · 2018Pooled it
- Analysis of the common genetic component of large-vessel vasculitides through a meta-Immunochip strategy.Scientific reports · 2017Pooled it
- A multi-ancestry genetic reference for the Quebec population.Nature communications · 2026Article
- Dual effects of probiotic administration prior to Mycobacterium avium subsp. paratuberculosis infection are associated with immunological and microbiota shifts.Scientific reports · 2025Article
- Decoding Behcet's Uveitis: an In-depth review of pathogenesis and therapeutic advances.Journal of neuroinflammation · 2024Review
- Genome-Wide Association Study Identifies IFIH1 and HLA-DQB1*05:02 Loci Associated With Anti-NMDAR Encephalitis.Neurology(R) neuroimmunology & neuroinflammation · 2024Article
- Clinical trait-specific genetic analysis in Behçet's disease identifies novel loci associated with ocular and neurological involvement.Clinical immunology (Orlando, Fla.) · 2023Article
- EULAR study group on 'MHC-I-opathy': identifying disease-overarching mechanisms across disciplines and borders.Annals of the rheumatic diseases · 2023Review
- Advances in pathogenesis and treatment of ocular involvement in Behcet's disease.Frontiers in immunology · 2023Review
- The complex HLA-E-nonapeptide in Behçet disease.Frontiers in immunology · 2023Article
- A Mendelian randomization study of genetic predisposition to autoimmune diseases and COVID-19.Scientific reports · 2022Article
- Genetics in Behcet's Disease: An Update Review.Frontiers in ophthalmology · 2022Review
- Using hierarchical similarity to examine the genetics of Behçet's disease.BMC research notes · 2021Article
- Genetic Association of a Gain-of-Function IFNGR1 Polymorphism and the Intergenic Region LNCAROD/DKK1 With Behçet's Disease.Arthritis & rheumatology (Hoboken, N.J.) · 2021Article
- Clinical Relevance of Corticosteroid Withdrawal on Graft Histological Lesions in Low-Immunological-Risk Kidney Transplant Patients.Journal of clinical medicine · 2021Article
- Genetics of Behçet's Disease: Functional Genetic Analysis and Estimating Disease Heritability.Frontiers in medicine · 2021Review
- Pathogenesis of Non-Infectious Uveitis Elucidated by Recent Genetic Findings.Frontiers in immunology · 2021Review
Corrections and comments
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Authors and funding
23 authors at 17 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Behcet's disease (BD) is an immuno-mediated vasculitis in which knowledge of its etiology and genetic basis is limited. To improve the current knowledge, a genetic analysis performed with the Immunochip platform was carried out in a population from Spain. A discovery cohort comprising 278 BD cases and 1,517 unaffected controls were genotyped using the Immunochip platform. The validation step was performed on an independent replication cohort composed of 130 BD cases and 600 additional controls. The strongest association signals were observed in the HLA class I region, being HLA-B*51 the highest peak (overall P = 6.82E-32, OR = 3.82). A step-wise conditional logistic regression with classical alleles identified HLA-B*57 and HLA-A*03 as additional independent markers. The amino acid model that best explained the association, includes the position 97 of the HLA-B molecule and the position 66 of the HLA-A. Among the non-HLA loci, the most significant in the discovery analysis were: IL23R (rs10889664: P = 3.81E-12, OR = 2.00), the JRKL/CNTN5 region (rs2848479: P = 5.00E-08, OR = 1.68) and IL12A (rs1874886: P = 6.67E-08, OR = 1.72), which were confirmed in the validation phase (JRKL/CNTN5 rs2848479: P = 3.29E-10, OR = 1.66; IL12A rs1874886: P = 1.62E-08, OR = 1.61). Our results confirm HLA-B*51 as a primary-association marker in predisposition to BD and suggest additional independent signals within the class I region, specifically in the genes HLA-A and HLA-B. Regarding the non-HLA genes, in addition to IL-23R, previously reported in our population; IL12A, described in other populations, was found to be a BD susceptibility factor also in Spaniards; finally, a new associated locus was found in the JRKL/CNTN5 region.
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