ArticlePediatric rheumatology online journal2013
Autoinflammatory gene polymorphisms and susceptibility to UK juvenile idiopathic arthritis.
Article in Pediatric rheumatology online journal, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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
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Who cites it
13 citing papers in PubMed, 19 citations in OpenAlex.
- Pathogenic and genetic landscape of Still's disease across ages, with new insights into age-related IL-18 patterns.Arthritis research & therapy · 2026Review
- New discoveries in the genetics and genomics of systemic juvenile idiopathic arthritis.Expert review of clinical immunology · 2024Review
- Successful use of extracorporeal membrane oxygenation for life-threatening macrophage activation syndrome after treatment with tocilizumab in an systemic juvenile idiopathic arthritis patient.Pediatric discovery · 2023Article
- The clinical and experimental treatment of Juvenile Idiopathic Arthritis.Clinical and experimental immunology · 2023Review
- Multicentric Carpotarsal Osteolysis Syndrome in a Mother and Daughter with aMolecular syndromology · 2022Article
- Review
- Building a Population Representative Pediatric Biobank: Lessons Learned From the Greater Cincinnati Childhood Cohort.Frontiers in public health · 2020Article
- NFIL3 mutations alter immune homeostasis and sensitise for arthritis pathology.Annals of the rheumatic diseases · 2019Article
- IL1RN Variation Influences Both Disease Susceptibility and Response to Recombinant Human Interleukin-1 Receptor Antagonist Therapy in Systemic Juvenile Idiopathic Arthritis.Arthritis & rheumatology (Hoboken, N.J.) · 2018Article
- Association ofBioMed research international · 2018Article
- MMAB, a novel candidate gene to be screened in the molecular diagnosis of Mevalonate Kinase Deficiency.Rheumatology international · 2018Article
- Meta-analysis of the association betweenOncotarget · 2017Article
- Immunogenetics of juvenile idiopathic arthritis: A comprehensive review.Journal of autoimmunity · 2015Review
Corrections and comments
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Authors and funding
12 authors at 5 institutions in 2 countries.
Funding
Abstract
backgroundTo investigate the autoinflammatory hereditary periodic fever syndrome genes MVK and TNFRSF1A, and the NLRP1 and IL1 genes, for association with juvenile idiopathic arthritis (JIA).
methodsFor MVK, TNFRSF1A and NLRP1 pair-wise tagging SNPs across each gene were selected and for IL1A SNPs from a prior meta-analysis were included. 1054 UK Caucasian JIA patients were genotyped by Sequenom iPlex MassARRAY and allele and genotype frequencies compared with 5380 unrelated healthy UK Caucasian controls.
resultsFour SNPs were significantly associated with UK JIA: rs2071374 within intron 4 of IL1A (ptrend=0.006), rs2228576 3' of TNFRSF1A (ptrend=0.009) and 2 SNPs, rs11836136 and rs7957619, within MVK (ptrend=0.006, ptrend=0.005 respectively). In all cases the association appeared to be driven by the systemic-onset JIA (SoJIA) subtype. Genotype data for the two MVK SNPs was available in a validation cohort of 814 JIA (oligoarticular and RF negative polyarticular) cases and 3058 controls from the US. Replication was not confirmed, however, further suggesting that this association is specific to SoJIA.
conclusionsThese findings extend the observations of the relevance of studying monogenic loci as candidates for complex diseases. We provide novel evidence of association of MVK and TNFRSF1A with UK JIA, specifically driven by association with SoJIA and further confirm that the IL1A SNP association with SoJIA is subtype specific. Replication is required in independent cohorts.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.