Investigation of rheumatoid arthritis susceptibility loci in juvenile idiopathic arthritis confirms high degree of overlap

Wendy Thomson, UKRAG Consortium, Childhood Arthritis Prospective Study (CAPS), British Society of Paediatric and Adolescent Rheumatology (BSPAR) Study Group

Research output: Contribution to journalArticle

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Abstract

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.

Original languageEnglish
Pages (from-to)1117-1121
Number of pages5
JournalAnnals of the Rheumatic Diseases
Volume71
Issue number7
DOIs
Publication statusPublished - 31 Jan 2012

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Juvenile Arthritis
Rheumatoid Arthritis
Association reactions
Polymorphism
Nucleotides
Genes
T-cells
Single Nucleotide Polymorphism
Chemical activation
Proteins
Gene Frequency
Genotype
Genome

ASJC Scopus subject areas

  • Rheumatology
  • Immunology and Allergy
  • Immunology
  • Biochemistry, Genetics and Molecular Biology(all)

Cite this

Thomson, W., UKRAG Consortium, Childhood Arthritis Prospective Study (CAPS), & British Society of Paediatric and Adolescent Rheumatology (BSPAR) Study Group (2012). Investigation of rheumatoid arthritis susceptibility loci in juvenile idiopathic arthritis confirms high degree of overlap. Annals of the Rheumatic Diseases, 71(7), 1117-1121. https://doi.org/10.1136/annrheumdis-2011-200814

Investigation of rheumatoid arthritis susceptibility loci in juvenile idiopathic arthritis confirms high degree of overlap. / Thomson, Wendy; UKRAG Consortium; Childhood Arthritis Prospective Study (CAPS); British Society of Paediatric and Adolescent Rheumatology (BSPAR) Study Group.

In: Annals of the Rheumatic Diseases, Vol. 71, No. 7, 31.01.2012, p. 1117-1121.

Research output: Contribution to journalArticle

Thomson, W, UKRAG Consortium, Childhood Arthritis Prospective Study (CAPS) & British Society of Paediatric and Adolescent Rheumatology (BSPAR) Study Group 2012, 'Investigation of rheumatoid arthritis susceptibility loci in juvenile idiopathic arthritis confirms high degree of overlap', Annals of the Rheumatic Diseases, vol. 71, no. 7, pp. 1117-1121. https://doi.org/10.1136/annrheumdis-2011-200814
Thomson W, UKRAG Consortium, Childhood Arthritis Prospective Study (CAPS), British Society of Paediatric and Adolescent Rheumatology (BSPAR) Study Group. Investigation of rheumatoid arthritis susceptibility loci in juvenile idiopathic arthritis confirms high degree of overlap. Annals of the Rheumatic Diseases. 2012 Jan 31;71(7):1117-1121. https://doi.org/10.1136/annrheumdis-2011-200814
Thomson, Wendy ; UKRAG Consortium ; Childhood Arthritis Prospective Study (CAPS) ; British Society of Paediatric and Adolescent Rheumatology (BSPAR) Study Group. / Investigation of rheumatoid arthritis susceptibility loci in juvenile idiopathic arthritis confirms high degree of overlap. In: Annals of the Rheumatic Diseases. 2012 ; Vol. 71, No. 7. pp. 1117-1121.
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abstract = "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.",
author = "Anne Hinks and Joanna Cobb and Marc Sudman and Stephen Eyre and Paul Martin and Edward Flynn and Jonathon Packham and Anne Barton and Jane Worthington and Langefeld, {Carl D.} and Glass, {David N.} and Thompson, {Susan D.} and Wendy Thomson and Lynne Hocking and Reid, {David M.} and {UKRAG Consortium} and {Childhood Arthritis Prospective Study (CAPS)} and {British Society of Paediatric and Adolescent Rheumatology (BSPAR) Study Group}",
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AU - Martin, Paul

AU - Flynn, Edward

AU - Packham, Jonathon

AU - Barton, Anne

AU - Worthington, Jane

AU - Langefeld, Carl D.

AU - Glass, David N.

AU - Thompson, Susan D.

AU - Thomson, Wendy

AU - Hocking, Lynne

AU - Reid, David M.

AU - UKRAG Consortium

AU - Childhood Arthritis Prospective Study (CAPS)

AU - British Society of Paediatric and Adolescent Rheumatology (BSPAR) Study Group

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N2 - 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.

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