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Investigation of rheumatoid arthritis susceptibility loci in juvenile idiopathic arthritis confirms high degree of overlap
OBJECTIVES: Rheumatoid arthritis (RA) shares some similar clinical and pathological features with juvenile idiopathic arthritis (JIA); indeed, the strategy of investigating whether RA susceptibility loci also confer susceptibility to JIA has already proved highly successful in identifying novel JIA...
Autores principales: | , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BMJ Group
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3375583/ https://www.ncbi.nlm.nih.gov/pubmed/22294642 http://dx.doi.org/10.1136/annrheumdis-2011-200814 |
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author | Hinks, Anne Cobb, Joanna Sudman, Marc Eyre, Stephen Martin, Paul Flynn, Edward Packham, Jonathon Barton, Anne Worthington, Jane Langefeld, Carl D Glass, David N Thompson, Susan D Thomson, Wendy |
author_facet | Hinks, Anne Cobb, Joanna Sudman, Marc Eyre, Stephen Martin, Paul Flynn, Edward Packham, Jonathon Barton, Anne Worthington, Jane Langefeld, Carl D Glass, David N Thompson, Susan D Thomson, Wendy |
author_sort | Hinks, Anne |
collection | PubMed |
description | OBJECTIVES: Rheumatoid arthritis (RA) shares some similar clinical and pathological features with juvenile idiopathic arthritis (JIA); indeed, the strategy of investigating whether RA susceptibility loci also confer susceptibility to JIA has already proved highly successful in identifying novel JIA loci. A plethora of newly validated RA loci has been reported in the past year. Therefore, the aim of this study was to investigate these single nucleotide polymorphisms (SNP) to determine if they were also associated with JIA. METHODS: Thirty-four SNP that showed validated association with RA and had not been investigated previously in the UK JIA cohort were genotyped in JIA cases (n=1242), healthy controls (n=4281), and data were extracted for approximately 5380 UK Caucasian controls from the Wellcome Trust Case–Control Consortium 2. Genotype and allele frequencies were compared between cases with JIA and controls using PLINK. A replication cohort of 813 JIA cases and 3058 controls from the USA was available for validation of any significant findings. RESULTS: Thirteen SNP showed significant association (p<0.05) with JIA and for all but one the direction of association was the same as in RA. Of the eight loci that were tested, three showed significant association in the US cohort. CONCLUSIONS: A novel JIA susceptibility locus was identified, CD247, which represents another JIA susceptibility gene whose protein product is important in T-cell activation and signalling. The authors have also confirmed association of the PTPN2 and IL2RA genes with JIA, both reaching genome-wide significance in the combined analysis. |
format | Online Article Text |
id | pubmed-3375583 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2012 |
publisher | BMJ Group |
record_format | MEDLINE/PubMed |
spelling | pubmed-33755832012-06-18 Investigation of rheumatoid arthritis susceptibility loci in juvenile idiopathic arthritis confirms high degree of overlap Hinks, Anne Cobb, Joanna Sudman, Marc Eyre, Stephen Martin, Paul Flynn, Edward Packham, Jonathon Barton, Anne Worthington, Jane Langefeld, Carl D Glass, David N Thompson, Susan D Thomson, Wendy Ann Rheum Dis Clinical and Epidemiological Research OBJECTIVES: Rheumatoid arthritis (RA) shares some similar clinical and pathological features with juvenile idiopathic arthritis (JIA); indeed, the strategy of investigating whether RA susceptibility loci also confer susceptibility to JIA has already proved highly successful in identifying novel JIA loci. A plethora of newly validated RA loci has been reported in the past year. Therefore, the aim of this study was to investigate these single nucleotide polymorphisms (SNP) to determine if they were also associated with JIA. METHODS: Thirty-four SNP that showed validated association with RA and had not been investigated previously in the UK JIA cohort were genotyped in JIA cases (n=1242), healthy controls (n=4281), and data were extracted for approximately 5380 UK Caucasian controls from the Wellcome Trust Case–Control Consortium 2. Genotype and allele frequencies were compared between cases with JIA and controls using PLINK. A replication cohort of 813 JIA cases and 3058 controls from the USA was available for validation of any significant findings. RESULTS: Thirteen SNP showed significant association (p<0.05) with JIA and for all but one the direction of association was the same as in RA. Of the eight loci that were tested, three showed significant association in the US cohort. CONCLUSIONS: A novel JIA susceptibility locus was identified, CD247, which represents another JIA susceptibility gene whose protein product is important in T-cell activation and signalling. The authors have also confirmed association of the PTPN2 and IL2RA genes with JIA, both reaching genome-wide significance in the combined analysis. BMJ Group 2012-01-31 /pmc/articles/PMC3375583/ /pubmed/22294642 http://dx.doi.org/10.1136/annrheumdis-2011-200814 Text en Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions This is an open-access article distributed under the terms of the Creative Commons Attribution Non-commercial License, which permits use, distribution, and reproduction in any medium, provided the original work is properly cited, the use is non commercial and is otherwise in compliance with the license. See: http://creativecommons.org/licenses/by-nc/2.0/ and http://creativecommons.org/licenses/by-nc/2.0/legalcode. |
spellingShingle | Clinical and Epidemiological Research Hinks, Anne Cobb, Joanna Sudman, Marc Eyre, Stephen Martin, Paul Flynn, Edward Packham, Jonathon Barton, Anne Worthington, Jane Langefeld, Carl D Glass, David N Thompson, Susan D Thomson, Wendy Investigation of rheumatoid arthritis susceptibility loci in juvenile idiopathic arthritis confirms high degree of overlap |
title | Investigation of rheumatoid arthritis susceptibility loci in juvenile idiopathic arthritis confirms high degree of overlap |
title_full | Investigation of rheumatoid arthritis susceptibility loci in juvenile idiopathic arthritis confirms high degree of overlap |
title_fullStr | Investigation of rheumatoid arthritis susceptibility loci in juvenile idiopathic arthritis confirms high degree of overlap |
title_full_unstemmed | Investigation of rheumatoid arthritis susceptibility loci in juvenile idiopathic arthritis confirms high degree of overlap |
title_short | Investigation of rheumatoid arthritis susceptibility loci in juvenile idiopathic arthritis confirms high degree of overlap |
title_sort | investigation of rheumatoid arthritis susceptibility loci in juvenile idiopathic arthritis confirms high degree of overlap |
topic | Clinical and Epidemiological Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3375583/ https://www.ncbi.nlm.nih.gov/pubmed/22294642 http://dx.doi.org/10.1136/annrheumdis-2011-200814 |
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