ArticleArthritis research & therapy2012
Replication study confirms the association between UBAC2 and Behçet's disease in two independent Chinese sets of patients and controls.
Article in Arthritis research & therapy, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 42 citations in OpenAlex.
- The Dsc complex and its role in Golgi quality control.Biochemical Society transactions · 2024Review
- Decoding Behcet's Uveitis: an In-depth review of pathogenesis and therapeutic advances.Journal of neuroinflammation · 2024Review
- Association between UBAC2 gene polymorphism and the risk of noise-induced hearing loss: a cross-sectional study.Environmental science and pollution research international · 2022Article
- Genetics in Behcet's Disease: An Update Review.Frontiers in ophthalmology · 2022Review
- Critical Role of Gut Microbiota and Epigenetic Factors in the Pathogenesis of Behçet's Disease.Frontiers in cell and developmental biology · 2021Review
- Pathogenesis of Non-Infectious Uveitis Elucidated by Recent Genetic Findings.Frontiers in immunology · 2021Review
- UBAC2 promotes bladder cancer proliferation through BCRC-3/miRNA-182-5p/p27 axis.Cell death & disease · 2020Article
- Current State of Precision Medicine in Primary Systemic Vasculitides.Frontiers in immunology · 2019Review
- Arabidopsis Endoplasmic Reticulum-Localized UBAC2 Proteins Interact with PAMP-INDUCED COILED-COIL to Regulate Pathogen-Induced Callose Deposition and Plant Immunity.The Plant cell · 2019Article
- Association ofThe British journal of ophthalmology · 2018Article
- Immune Regulatory Genes Are Major Genetic Factors to Behcet Disease: Systematic Review.The open rheumatology journal · 2018Review
- Comprehensive analysis of the association between UBAC2 polymorphisms and Behçet's disease in a Japanese population.Scientific reports · 2017Article
- Associations of rs4810485 and rs1883832 polymorphisms of CD40 gene with susceptibility and clinical findings of Behçet's disease.Rheumatology international · 2015Article
- FCRL3 gene polymorphisms confer autoimmunity risk for allergic rhinitis in a Chinese Han population.PloS one · 2015Article
- Regulatory genomic regions active in immune cell types explain a large proportion of the genetic risk of multiple sclerosis.Journal of human genetics · 2014Article
- Genetic variants in the JAK1 gene confer higher risk of Behcet's disease with ocular involvement in Han Chinese.Human genetics · 2013Article
- TNFAIP3 gene polymorphisms confer risk for Behcet's disease in a Chinese Han population.Human genetics · 2013Article
- The genetics of Behçet's disease in a Chinese population.Frontiers of medicine · 2012Review
- New lives for old: evolution of pseudoenzyme function illustrated by iRhoms.Nature reviews. Molecular cell biology · 2012Review
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Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionThe purpose of this study was to replicate genetic factors associated with the susceptibility to Behçet's disease (BD). We conducted a two-stage candidate genes association and functional study, involving 477 BD patients and 1,334 normal controls of Chinese Han descent.
methodsThe genotyping of five candidate genes/loci, including LOC100129342, KIAA1529, CPVL, UBASH3B and UBAC2, were performed using TaqMan single nucleotide polymorphism (SNP) assays. Real-time PCR and luciferase reporter assay were performed to test the function of the identified promoter polymorphism. The main outcome measures were genotype frequencies and expression levels in BD patients.
resultsThe first-stage study results showed that UBAC2 (rs9513584, Pc = 0.018, OR = 1.4), but not LOC100129342, KIAA1529, CPVL, UBASH3B was associated with the susceptibility to BD in Chinese Han. The fine-mapping association study of UBAC2 identified six risk SNPs for BD in the Chinese cohort; three of them were verified in validation study (rs3825427, first-stage Pc = 2.2 × 10-3, second-stage Pc = 9.3 × 10-3, combined Pc = 6.9 × 10-6; rs9517668, first-stage Pc = 1.7 × 10-3, second-stage Pc = 0.03, combined Pc = 3.3 × 10-4; rs9517701, first-stage Pc = 5.1 × 10-3, second-stage Pc = 9.0 × 10-3, combined Pc = 2.9 × 10-5; respectively). Functional analysis showed that the risk T allele of the promoter polymorphism rs3825427 had a significantly lower promoter activity than the non-risk G allele (P = 0.002) and a decreased expression of UBAC2 transcript variant 1 in peripheral blood mononuclear cells (PBMCs) and skin of normal controls carrying the risk T allele than that in individuals with the G allele (P = 0.045, P = 0.025; respectively). The mRNA expression of UBAC2 transcript variant 1 was significantly decreased in PBMCs and skin of BD patients as compared with controls (P = 0.025; P = 0.047, respectively). The mRNA expression of UBAC2 transcript variant 2 was significantly increased in skin of BD patients as compared with controls (P = 0.004).
conclusionsThis study replicates a predisposition gene to BD, UBAC2, and suggests that UBAC2 may be involved in the development of BD through its transcriptional modulation.
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