SynthesisArthritis and rheumatism2012
Genome-wide association analysis of juvenile idiopathic arthritis identifies a new susceptibility locus at chromosomal region 3q13.
Synthesis in Arthritis and rheumatism, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
33 citing papers in PubMed, 1 synthesis or guideline pooled it, 71 citations in OpenAlex.
- Genome-Wide Association Meta-Analysis Reveals Novel Juvenile Idiopathic Arthritis Susceptibility Loci.Arthritis & rheumatology (Hoboken, N.J.) · 2017Pooled it
- The gut-joint axis in juvenile idiopathic arthritis.Arthritis research & therapy · 2026Review
- Integrative analysis reveals novel insights into juvenile idiopathic arthritis pathogenesis and shared molecular pathways with associated traits.Frontiers in genetics · 2024Article
- The clinical and experimental treatment of Juvenile Idiopathic Arthritis.Clinical and experimental immunology · 2023Review
- Jmjd1c demethylates STAT3 to restrain plasma cell differentiation and rheumatoid arthritis.Nature immunology · 2022Article
- A Cross-Tissue Transcriptome-Wide Association Study Identifies Novel Susceptibility Genes for Juvenile Idiopathic Arthritis in Asia and Europe.Frontiers in immunology · 2022Article
- Spondyloarthritides: Theories and beyond.Frontiers in pediatrics · 2022Review
- Recent Updates in Juvenile Spondyloarthritis.Rheumatic diseases clinics of North America · 2021Review
- CD4+ T cells from children with active juvenile idiopathic arthritis show altered chromatin features associated with transcriptional abnormalities.Scientific reports · 2021Article
- Review
- Functional genomics in autoimmune diseases.Human molecular genetics · 2020Review
- Genetic aspects of idiopathic paediatric uveitis and juvenile idiopathic arthritis associated uveitis in Chinese Han.The British journal of ophthalmology · 2020Article
- Building a Population Representative Pediatric Biobank: Lessons Learned From the Greater Cincinnati Childhood Cohort.Frontiers in public health · 2020Article
- Article
- Immunomics in Pediatric Rheumatic Diseases.Frontiers in medicine · 2019Review
- Identification of Target Genes at Juvenile Idiopathic Arthritis GWAS Loci in Human Neutrophils.Frontiers in genetics · 2019Article
- Disease-specific regulation of gene expression in a comparative analysis of juvenile idiopathic arthritis and inflammatory bowel disease.Genome medicine · 2018Article
- Τhe genetics of juvenile idiopathic arthritis: Searching for new susceptibility loci.Molecular medicine reports · 2017Article
- Genetic insights into juvenile idiopathic arthritis derived from deep whole genome sequencing.Scientific reports · 2017Article
- Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study.JAMA oncology · 2017Article
Corrections and comments
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Authors and funding
22 authors at 9 institutions in 2 countries.
Funding
Abstract
objectiveIn a genome-wide association study of Caucasian patients with juvenile idiopathic arthritis (JIA), we have previously described findings limited to autoimmunity loci shared by JIA and other diseases. The present study was undertaken to identify novel JIA-predisposing loci using genome-wide approaches.
methodsThe discovery cohort consisted of Caucasian JIA cases (n = 814) and local controls (n = 658) genotyped on the Affymetrix Genome-Wide SNP 6.0 Array, along with 2,400 out-of-study controls. In a replication study, we genotyped 10 single-nucleotide polymorphisms (SNPs) in 1,744 cases and 7,010 controls from the US and Europe.
resultsAnalysis within the discovery cohort provided evidence of associations at 3q13 within C3orf1 and near CD80 (rs4688011) (odds ratio [OR] 1.37, P = 1.88 × 10(-6) ) and at 10q21 near JMJD1C (rs647989 [OR 1.59, P = 6.1 × 10(-8) ], rs12411988 [OR 1.57, P = 1.16 × 10(-7) ], and rs10995450 [OR 1.31, P = 6.74 × 10(-5) ]). Meta-analysis provided further evidence of association for these 4 SNPs (P = 3.6 × 10(-7) for rs4688011, P = 4.33 × 10(-5) for rs6479891, P = 2.71 × 10(-5) for rs12411988, and P = 5.39 × 10(-5) for rs10995450). Gene expression data on 68 JIA cases and 23 local controls showed cis expression quantitative trait locus associations for C3orf1 SNP rs4688011 (P = 0.024 or P = 0.034, depending on the probe set) and JMJD1C SNPs rs6479891 and rs12411988 (P = 0.01 or P = 0.04, depending on the probe set and P = 0.008, respectively). Using a variance component liability model, it was estimated that common SNP variation accounts for approximately one-third of JIA susceptibility.
conclusionGenetic association results and correlated gene expression findings provide evidence of JIA association at 3q13 and suggest novel genes as plausible candidates in disease pathology.
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