ArticleHuman genetics2013
Genetic variants in the JAK1 gene confer higher risk of Behcet's disease with ocular involvement in Han Chinese.
Article in Human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 53 citations in OpenAlex.
- Upadacitinib for refractory Behçet's disease with myelodysplastic syndrome and trisomy 8/9: a case report and mechanistic insights.Frontiers in immunology · 2025Article
- Integrative immunology identified interferome signatures in uveitis and systemic disease-associated uveitis.Frontiers in immunology · 2025Article
- Neutrophil extracellular trap related risk score exhibits crucial prognostic value in skin cutaneous melanoma, associating with distinct immune characteristics.Skin research and technology : official journal of International Society for Bioengineering and the Skin (ISBS) [and] International Society for Digital Imaging of Skin (ISDIS) [and] International Society for Skin Imaging (ISSI) · 2024Article
- OR11H1 Missense Variant Confers the Susceptibility to Vogt-Koyanagi-Harada Disease by Mediating Gadd45g Expression.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2024Article
- A peptide mimic of SOCS1 modulates equine peripheral immune cellsFrontiers in immunology · 2024Article
- Transcriptome analysis of immune cells from Behçet's syndrome patients: the importance of IL-17-producing cells and antigen-presenting cells in the pathogenesis of Behçet's syndrome.Arthritis research & therapy · 2022Article
- Article
- Genetics in Behcet's Disease: An Update Review.Frontiers in ophthalmology · 2022Review
- Genetic Polymorphisms in Transforming Growth Factor-β, Interferon-γ and Interleukin-6 Genes and Susceptibility to Behcet's Disease in Saudi Population.Pharmacogenomics and personalized medicine · 2020Article
- Association ofThe British journal of ophthalmology · 2018Article
- Genetic polymorphisms of C-type lectin receptors in Behcet's disease in a Chinese Han population.Scientific reports · 2017Article
- A preliminary study of new single polymorphisms in the T helper type 17 pathway for psoriasis in the Korean population.Clinical and experimental immunology · 2017Article
- Clinical significance of NCOA5 gene rs2903908 polymorphism in Behçet's disease.EXCLI journal · 2017Article
- Lack of Association between Genetic Polymorphisms of JAK-STAT Signaling Pathway Genes and Acute Anterior Uveitis in Han Chinese.BioMed research international · 2016Article
- Genetic Association of HLA-A*26, -A*31, and -B*51 with Behcet's Disease in Saudi Patients.Clinical medicine insights. Arthritis and musculoskeletal disorders · 2016Article
- Activation of the JAK/STAT pathway in Behcet's disease.Genes and immunity · 2015Article
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Recent surveys have identified SLC22A4, SLC22A5, RUNX1, JAK1 as susceptibility genes for various immune-related diseases. An association study was performed in 738 Behcet's patients with ocular involvement and 1,873 controls using the iPLEX system method. The first-stage study for 30 SNPs showed that SNPs rs2780815, rs310241, rs3790532 in JAK1 were associated with Behcet's disease in Han Chinese (Pc(Bonferroni correction) = 0.022-7.7 × 10(-3)). The G allele and AA genotype of SNP rs2834643 in RUNX1 (Pc = 0.041-1.75 × 10(-3)), but none of the other SNPs, were associated with Behcet's disease. Haplotype analysis for the SLC22A4, SLC22A5 genes showed an increased tendency for AGTCTGCCGC frequency in patients compared with controls; however, the significance was lost after Bonferroni correction (P = 0.004, Pc > 0.05). Subsequently, we further replicated the significantly associated SNPs using another independent cohort. Replication and combining studies showed that three SNPs rs2780815, rs310241, rs3790532 in JAK1, but not SNP rs2834643 in RUNX1, were consistently associated with Behcet's disease (replication: Pc = 0.012-9.60 × 10(-4); combining: Pc = 0.030-1.90 × 10(-4)). SNPs rs2780815, rs310241, rs3790532 were estimated to confer a population attributable risk of 35.0, 28.0, 27.0 %, respectively. We found a strong association between HLA-B51 with Behcet's disease in Chinese Han population (P = 1.35 × 10(-73); OR = 5.15; 95 % CI 4.28-6.19). GMDR analysis showed that no gene-gene interaction was detectable between JAK1 and HLA-B51. Logistic analysis indicated that the JAK1 gene was an independent risk factor for Behcet's disease (P > 0.05). Real-time PCR analysis showed that no difference on the expression of JAK1 in PBMCs or LPS-stimulated PBMCs between individuals with the different rs1762780815 genotypes studied (P > 0.05). In conclusion, this study suggests that JAK1, but not SLC22A4, SLC22A5 and RUNX1, contributes to the genetic susceptibility to Behcet's disease with ocular involvement.
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