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DC Field | Value | Language |
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dc.contributor.author | Chiaroni-Clarke R.C. | en |
dc.contributor.author | Ellis J.A. | en |
dc.contributor.author | Ponsonby A.-L. | en |
dc.contributor.author | Saffery R. | en |
dc.contributor.author | Piper S.E. | en |
dc.contributor.author | Akikusa J.D. | en |
dc.contributor.author | Allen R.C. | en |
dc.contributor.author | Pezic A. | en |
dc.contributor.author | Chavez R.A. | en |
dc.contributor.author | Munro J.E. | en |
dc.date.accessioned | 2021-05-14T14:16:34Z | en |
dc.date.available | 2021-05-14T14:16:34Z | en |
dc.date.copyright | 2014 | en |
dc.date.created | 20150316 | en |
dc.date.issued | 2015-03-16 | en |
dc.identifier.citation | Pediatric Rheumatology. 12 (1) (no pagination), 2014. Article Number: 53. Date of Publication: December 16, 2014. | en |
dc.identifier.issn | 1546-0096 (electronic) | en |
dc.identifier.uri | https://repository.monashhealth.org/monashhealthjspui/handle/1/41652 | en |
dc.description.abstract | Background: Our 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. Finding(s): Genotyping 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). Conclusion(s): We 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.Copyright © 2014 Chiaroni-Clarke et al. | en |
dc.language | English | en |
dc.language | en | en |
dc.publisher | BioMed Central Ltd. (E-mail: info@biomedcentral.com) | en |
dc.relation.ispartof | Pediatric Rheumatology | en |
dc.title | Independent confirmation of juvenile idiopathic arthritis genetic risk loci previously identified by immunochip array analysis. | en |
dc.type | Article | en |
dc.type.studyortrial | Observational study (cohort, case-control, cross sectional or survey) | - |
dc.identifier.doi | http://monash.idm.oclc.org/login?url=http://dx.doi.org/10.1186/1546-0096-12-53 | en |
dc.publisher.place | United Kingdom | en |
dc.identifier.pubmedid | 25540605 [http://www.ncbi.nlm.nih.gov/pubmed/?term=25540605] | en |
dc.identifier.source | 602648642 | en |
dc.identifier.institution | (Chiaroni-Clarke, Chavez, Ellis) Genes, Environment and Complex Disease, Murdoch Childrens Research Institute, 50 Flemington Rd, Parkville, VIC 3052, Australia (Chiaroni-Clarke, Chavez, Saffery, Ponsonby, Ellis) Department of Paediatrics, The University of Melbourne, Parkville, VIC 3010, Australia (Munro, Allen, Akikusa) Arthritis and Rheumatology, Murdoch Childrens Research Institute, 50 Flemington Rd, Parkville, VIC 3052, Australia (Munro, Allen, Akikusa) Paediatric Rheumatology Unit, Royal Children's Hospital, 50 Flemington Road, Parkville, VIC 3052, Australia (Pezic, Ponsonby) Environmental and Genetic Epidemiology Research, Murdoch Childrens Research Institute, 50 Flemington Rd, Parkville, VIC 3052, Australia (Piper) Paediatric Rheumatology Department, Monash Children's Hospital, Monash Medical Centre, 246 Clayton Road, Clayton, VIC 3168, Australia (Saffery) Cancer and Disease Epigenetics, Murdoch Childrens Research Institute, 50 Flemington Rd, Parkville, VIC 3052, Australia | en |
dc.description.address | J.A. Ellis, Genes, Environment and Complex Disease, Murdoch Childrens Research Institute, 50 Flemington Rd, Parkville, VIC 3052, Australia | en |
dc.description.publicationstatus | Embase | en |
dc.rights.statement | Copyright 2015 Elsevier B.V., All rights reserved. | en |
dc.subect.keywords | Genetic association Immunochip Independent replication Juvenile idiopathic arthritis | en |
dc.identifier.authoremail | Chiaroni-Clarke R.C.; rachel.chiaroniclarke@mcri.edu.au Chavez R.A.; raul.chavez@mcri.edu.au Ellis J.A.; justine.ellis@mcri.edu.au Munro J.E.; jane.munro@rch.org.au Allen R.C.; roger.allen@rch.org.au Akikusa J.D.; jonathan.akikusa@rch.org.au Pezic A.; angela.pezic@mcri.edu.au Ponsonby A.-L.; anne-louise.ponsonby@mcri.edu.au Piper S.E.; sue.piper@monash.edu Saffery R.; richard.saffery@mcri.edu.au | en |
item.fulltext | No Fulltext | - |
item.grantfulltext | none | - |
item.cerifentitytype | Publications | - |
item.openairetype | Article | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
Appears in Collections: | Articles |
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