ArticleArthritis research & therapy2017
Behçet's disease risk association fine-mapped on the IL23R-IL12RB2 intergenic region in Koreans.
Article in Arthritis research & therapy, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 28 citations in OpenAlex.
- The Genetic Background of Ankylosing Spondylitis Reveals a Distinct Overlap with Autoimmune Diseases: A Systematic Review.Journal of clinical medicine · 2025Review
- Intestinal Behçet's disease: A review of clinical diagnosis and treatment.World journal of gastrointestinal surgery · 2024Article
- STAT4 gene polymorphisms in human diseases.Frontiers in immunology · 2024Review
- Genetics in Behcet's Disease: An Update Review.Frontiers in ophthalmology · 2022Review
- The Immunogenetics of Behcet's Disease.Advances in experimental medicine and biology · 2022Article
- The Immunogenetics of Vasculitis.Advances in experimental medicine and biology · 2022Review
- Epidemiologic and Etiological Features of Korean Patients With Behçet's Disease.Journal of rheumatic diseases · 2021Review
- A First Step for the Molecular Characterization of Neurological Involvement of Behçet Syndrome: an Italian Pivotal Study.Journal of molecular neuroscience : MN · 2021Article
- A Darwinian View of Behçet's Disease.Rheumatology and immunology research · 2021Review
- Behçet's Disease-Do Microbiomes and Genetics Collaborate in Pathogenesis?Frontiers in immunology · 2021Review
- Behçet's syndrome: focus on pathogenetic background, clinical phenotypes and specific treatments.Internal and emergency medicine · 2019Article
- Distribution of rs17482078 and rs27044 ERAP1 polymorphisms in a group of Italian Behçet's syndrome patients: a preliminary case-control study.Internal and emergency medicine · 2019Article
- Behçet's Disease: An Overview of Etiopathogenesis.Frontiers in immunology · 2019Review
- Immune Regulatory Genes Are Major Genetic Factors to Behcet Disease: Systematic Review.The open rheumatology journal · 2018Review
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Authors and funding
12 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundBehçet's disease (BD) susceptibility had been associated with single-nucleotide polymorphisms (SNPs) in IL23R-IL12RB2, IL10, STAT4, or ERAP1 locus in Japanese, Turkish, Chinese, and other populations, but not in a Korean genome-wide association study (GWAS). We aimed to fine-map BD risk association of these four loci using extensive imputation and additional genotyping for replication.
methodsIn the discovery phase, 369 patients with BD enrolled in the previous Korean GWAS and 2000 controls retrieved from a population-based cohort of healthy Koreans were imputed for their genotypes of all SNPs in the four loci using the Asian data of the 1000 Genomes Project as reference. For genotype imputation of ERAP1 SNPs, the adjacent ERAP2 SNPs were also covered. For the 10 most significantly associated SNPs (8 imputed and 2 GWAS-genotyped), an additional 84 patients with BD and 283 healthy controls were genotyped for replication. The results from the discovery and replication phases were pooled for meta-analysis using the Mantel-Haenszel test to estimate the odds ratio (OR) and 95% confidence interval (CI).
resultsAn IL23R-IL12RB2 intergenic SNP rs1495965 was significantly associated with BD risk (OR (95% CI) = 1.5 (1.3, 1.7), P = 2.5 × 10
conclusionsBD susceptibility association was fine-mapped on the intergenic region between IL23R and IL12RB2 as marked by three correlated SNPs, rs1495965, rs1495966, and rs4655535.
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