Evidence map›Paper›PMID 25540605›Full record

ArticlePediatric rheumatology online journal2014

Independent confirmation of juvenile idiopathic arthritis genetic risk loci previously identified by immunochip array analysis.

Rachel C Chiaroni-Clarke, Jane E Munro, Raul A Chavez, Angela Pezic, Roger C Allen, Jonathan D Akikusa, Susan E Piper, Richard Saffery, Anne-Louise Ponsonby, Justine A Ellis

Open access · goldAbstract read
In one paragraph

Article in Pediatric rheumatology online journal, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
0.8field-weighted citation impact, top 26% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

9 citing papers in PubMed, 12 citations in OpenAlex.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors at 4 institutions in 1 country.

Rachel C Chiaroni-ClarkeGenes, Environment & Complex Disease, Murdoch Childrens Research Institute, 50 Flemington Rd, Parkville, Victoria 3052 Australia ; Department of Paediatrics, The University of Melbourne, Parkville, Vic 3010 Australia.
Jane E MunroArthritis & Rheumatology, Murdoch Childrens Research Institute, 50 Flemington Rd, Parkville, Victoria 3052 Australia ; Paediatric Rheumatology Unit, Royal Children's Hospital, 50 Flemington Road, Parkville, Victoria 3052 Australia.
Raul A ChavezGenes, Environment & Complex Disease, Murdoch Childrens Research Institute, 50 Flemington Rd, Parkville, Victoria 3052 Australia ; Department of Paediatrics, The University of Melbourne, Parkville, Vic 3010 Australia.
Angela PezicEnvironmental and Genetic Epidemiology Research, Murdoch Childrens Research Institute, 50 Flemington Rd, Parkville, Victoria 3052 Australia.
Roger C AllenArthritis & Rheumatology, Murdoch Childrens Research Institute, 50 Flemington Rd, Parkville, Victoria 3052 Australia ; Paediatric Rheumatology Unit, Royal Children's Hospital, 50 Flemington Road, Parkville, Victoria 3052 Australia.
Jonathan D AkikusaArthritis & Rheumatology, Murdoch Childrens Research Institute, 50 Flemington Rd, Parkville, Victoria 3052 Australia ; Paediatric Rheumatology Unit, Royal Children's Hospital, 50 Flemington Road, Parkville, Victoria 3052 Australia.
Susan E PiperPaediatric Rheumatology Department, Monash Children's Hospital, Monash Medical Centre, 246 Clayton Road, Clayton, Vic 3168 Australia.
Richard SafferyCancer & Disease Epigenetics, Murdoch Childrens Research Institute, 50 Flemington Rd, Parkville, Victoria 3052 Australia ; Department of Paediatrics, The University of Melbourne, Parkville, Vic 3010 Australia.
Anne-Louise PonsonbyEnvironmental and Genetic Epidemiology Research, Murdoch Childrens Research Institute, 50 Flemington Rd, Parkville, Victoria 3052 Australia ; Department of Paediatrics, The University of Melbourne, Parkville, Vic 3010 Australia.
Justine A EllisGenes, Environment & Complex Disease, Murdoch Childrens Research Institute, 50 Flemington Rd, Parkville, Victoria 3052 Australia ; Department of Paediatrics, The University of Melbourne, Parkville, Vic 3010 Australia.
Victorian Clinical Genetics Services · AURoyal Children's Hospital · AUMurdoch Children's Research Institute · AUMonash Children’s Hospital · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundOur understanding of the genetic factors underlying juvenile idiopathic arthritis (JIA) is growing, but remains incomplete. Recently, a number of novel genetic loci were reported to be associated with JIA at (or near) genome-wide significance in a large case-control discovery sample using the Immunochip genotyping array. However, independent replication of findings has yet to be performed. We therefore attempted to replicate these newly identified loci in the Australian CLARITY JIA case-control sample.

findingsGenotyping was successfully performed on a total of 404 JIA cases (mean age 6.4 years, 68% female) and 676 healthy child controls (mean age 7.1 years, 42% female) across 19 SNPs previously associated with JIA. We replicated a significant association (p < 0.05, odds ratio (OR) in a direction consistent with the previous report) for seven loci, six replicated for the first time--C5orf56-IRF1 (rs4705862), ERAP2-LNPEP (rs27290), PRR5L (rs4755450), RUNX1 (rs9979383), RUNX3 (rs4648881), and UBE2L3 (rs2266959).

conclusionsWe have carried out the first independent replication of association for six genes implicated in JIA susceptibility. Our data significantly strengthens the evidence that these loci harbor true disease associated variants. Thus, this study makes an important contribution to the growing body of international data that is revealing the genetic risk landscape of JIA.

Indexed as

GenotypeImmunoassayOligonucleotide Array Sequence AnalysisArthritis, JuvenileCarrier ProteinsCase-Control StudiesChildCore Binding Factor Alpha 2 SubunitCore Binding Factor Alpha 3 SubunitFemaleGenetic LociGenetic Predisposition to DiseaseHumansInterferon Regulatory Factor-1Intracellular Signaling Peptides and ProteinsMaleCarrier ProteinsCore Binding Factor Alpha 2 SubunitCore Binding Factor Alpha 3 SubunitInterferon Regulatory Factor-1Intracellular Signaling Peptides and ProteinsIRF1 protein, humanProtor-2 protein, humanRUNX1 protein, humanRunx3 protein, humanGenetic associationImmunochipIndependent replicationJuvenile idiopathic arthritis

Identifiers

PMID25540605
PMCPMC4276094
OpenAlexW2129089052

What OpenQuestion holds

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LicenceCC BY
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Registered trials

None linked

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.