ArticlePloS one2015
Genome-wide association study in an admixed case series reveals IL12A as a new candidate in Behçet disease.
Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 4 of them syntheses that pooled it.
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Who cites it
34 citing papers in PubMed, 4 syntheses or guidelines pooled it, 72 citations in OpenAlex.
- 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
- Genome-wide association study identifies nine novel loci for 2D:4D finger ratio, a putative retrospective biomarker of testosterone exposure in utero.Human molecular genetics · 2018Pooled it
- Meta-Analysis on Associations of RGS1 and IL12A Polymorphisms with Celiac Disease Risk.International journal of molecular sciences · 2016Pooled it
- Quantitative urinary proteome analysis reveals potential biomarkers for disease activity of Behcet's disease uveitis.BMC ophthalmology · 2024Article
- Decoding Behcet's Uveitis: an In-depth review of pathogenesis and therapeutic advances.Journal of neuroinflammation · 2024Review
- Clinical trait-specific genetic analysis in Behçet's disease identifies novel loci associated with ocular and neurological involvement.Clinical immunology (Orlando, Fla.) · 2023Article
- Neuro-Behçet Disease, Neuro-Sweet Disease, and Spectrum Disorders.Internal medicine (Tokyo, Japan) · 2022Article
- The Roles of Monocytes and Macrophages in Behçet's Disease With Focus on M1 and M2 Polarization.Frontiers in immunology · 2022Review
- 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
- Behçet Disease: An Update for Dermatologists.American journal of clinical dermatology · 2021Review
- Primary Immunodeficiency Disease Mimicking Pediatric Bechet's Disease.Children (Basel, Switzerland) · 2021Review
- Whole-Exome Sequencing of Patients With Posterior Segment Uveitis.American journal of ophthalmology · 2021Article
- Pathogenesis of Non-Infectious Uveitis Elucidated by Recent Genetic Findings.Frontiers in immunology · 2021Review
- Genetics of Behçet's Disease: Functional Genetic Analysis and Estimating Disease Heritability.Frontiers in medicine · 2021Review
- Critical roles of super-enhancers in the pathogenesis of autoimmune diseases.Inflammation and regeneration · 2020Review
- Past and Present Behçet's Disease Animal Models.Current drug targets · 2020Review
- KIR3DL1/S1 Allotypes Contribute Differentially to the Development of Behçet Disease.Journal of immunology (Baltimore, Md. : 1950) · 2019Article
Corrections and comments
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Authors and funding
12 authors at 5 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionThe etiology of Behçet's disease (BD) is unknown, but widely considered an excessive T-cell mediated inflammatory response in a genetically susceptible host. Recent genome-wide association studies (GWAS) have shown limited number of novel loci-associations. The rarity and unequal distribution of the disease prevalence amongst different ethnic backgrounds have hampered the use of GWAS in cohorts of mixed ethnicity and sufficient sample size. However, novel statistical approaches have now enabled GWAS in admixed cohorts.
methodsWe ran a GWAS on 336 BD cases and 5,843 controls. The cases consisted of Western Europeans, Middle Eastern and Turkish individuals. Participants from the Generation R study, a multiethnic birth cohort in Rotterdam, The Netherlands were used as controls. All samples were genotyped and data was combined. Linear regression models were corrected for population stratification using Genomic Principal Components and Linear Mixed Modelling. Meta-analysis was performed on selected results previously published.
resultsWe identified SNPs associated at genome-wide significant level mapping to the 6p21.33 (HLA) region. In addition to this known signal two potential novel associations on chromosomes 6 and 18 were identified, yet with low minor allele frequencies. Extended meta-analysis reveal a GWS association with the IL12A variant rs17810546 on chromosome 3. DISCUSSION: We demonstrate that new statistical techniques enable GWAS analyses in a limited sized cohort of mixed ethnicity. After implementation, we confirmed the central role of the HLA region in the disease and identified new regions of interest. Moreover, we validated the association of a variant in the IL2A gene by meta-analysis with previous work. These findings enhance our knowledge of genetic associations and BD, and provide further justification for pursuing collective initiatives in genetic studies given the low prevalence of this and other rare diseases.
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