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

Publication ,  Journal Article
Hinks, A; Cobb, J; Sudman, M; Eyre, S; Martin, P; Flynn, E; Packham, J; Childhood Arthritis Prospective Study (CAPS), ; Barton, A; Langefeld, CD ...
Published in: Ann Rheum Dis
July 2012

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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Published In

Ann Rheum Dis

DOI

EISSN

1468-2060

Publication Date

July 2012

Volume

71

Issue

7

Start / End Page

1117 / 1121

Location

England

Related Subject Headings

  • Protein Tyrosine Phosphatase, Non-Receptor Type 2
  • Polymorphism, Single Nucleotide
  • Interleukin-2 Receptor alpha Subunit
  • Humans
  • Genotype
  • Genome-Wide Association Study
  • Genetic Predisposition to Disease
  • Gene Frequency
  • Disease Progression
  • Child, Preschool
 

Citation

APA
Chicago
ICMJE
MLA
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Hinks, A., Cobb, J., Sudman, M., Eyre, S., Martin, P., Flynn, E., … Thomson, W. (2012). Investigation of rheumatoid arthritis susceptibility loci in juvenile idiopathic arthritis confirms high degree of overlap. Ann Rheum Dis, 71(7), 1117–1121. https://doi.org/10.1136/annrheumdis-2011-200814
Hinks, Anne, Joanna Cobb, Marc Sudman, Stephen Eyre, Paul Martin, Edward Flynn, Jonathon Packham, et al. “Investigation of rheumatoid arthritis susceptibility loci in juvenile idiopathic arthritis confirms high degree of overlap.Ann Rheum Dis 71, no. 7 (July 2012): 1117–21. https://doi.org/10.1136/annrheumdis-2011-200814.
Hinks A, Cobb J, Sudman M, Eyre S, Martin P, Flynn E, et al. Investigation of rheumatoid arthritis susceptibility loci in juvenile idiopathic arthritis confirms high degree of overlap. Ann Rheum Dis. 2012 Jul;71(7):1117–21.
Hinks, Anne, et al. “Investigation of rheumatoid arthritis susceptibility loci in juvenile idiopathic arthritis confirms high degree of overlap.Ann Rheum Dis, vol. 71, no. 7, July 2012, pp. 1117–21. Pubmed, doi:10.1136/annrheumdis-2011-200814.
Hinks A, Cobb J, Sudman M, Eyre S, Martin P, Flynn E, Packham J, Childhood Arthritis Prospective Study (CAPS), UK RA Genetics (UKRAG) Consortium, British Society of Paediatric and Adolescent Rheumatology (BSPAR) Study Group, Barton A, Worthington J, Langefeld CD, Glass DN, Thompson SD, Thomson W. Investigation of rheumatoid arthritis susceptibility loci in juvenile idiopathic arthritis confirms high degree of overlap. Ann Rheum Dis. 2012 Jul;71(7):1117–1121.

Published In

Ann Rheum Dis

DOI

EISSN

1468-2060

Publication Date

July 2012

Volume

71

Issue

7

Start / End Page

1117 / 1121

Location

England

Related Subject Headings

  • Protein Tyrosine Phosphatase, Non-Receptor Type 2
  • Polymorphism, Single Nucleotide
  • Interleukin-2 Receptor alpha Subunit
  • Humans
  • Genotype
  • Genome-Wide Association Study
  • Genetic Predisposition to Disease
  • Gene Frequency
  • Disease Progression
  • Child, Preschool