Finnish case-control and family studies support PTPN22 R620W polymorphism as a risk factor in rheumatoid arthritis, but suggest only minimal or no effect in juvenile idiopathic arthritis

Michael F Seldin, R. Shigeta, K. Laiho, H. Li, H. Saila, A. Savolainen, M. Leirisalo-Repo, K. Aho, E. Tuomilehto-Wolf, K. Kaarela, M. Kauppi, H. C. Alexander, A. B. Begovich, J. Tuomilehto

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Abstract

Several studies have identified the PTPN22 allelic variant 1858 C/T that encodes the R620W amino-acid change as a putative susceptibility factor in autoimmune diseases. The current study was undertaken to examine a large cohort of Finnish rheumatoid arthritis (RA) and juvenile idiopathic arthritis (JIA) subjects using both population control and, importantly, family-based association methods. The latter is particularly important when, as is the case for the 1858 C/T polymorphism, the frequency of the variant allele (T) differs in both major ancestral populations and in subpopulations. The analysis of rheumatoid factor-positive 1030 RA probands from Finland provides strong support for association of this variant in both population studies (allele specific odds ratio (OR) = 1.47, 95% confidence interval (CI) = 1.27 -1.70, P = 3 × 10-7) and in family studies (P<10-6). In contrast, no allelic association was seen with JIA (230 probands) and only weak evidence for a genotypic effect of 1858T homozygotes was observed in this population.

Original languageEnglish (US)
Pages (from-to)720-722
Number of pages3
JournalGenes and Immunity
Volume6
Issue number8
DOIs
StatePublished - Dec 2005

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Juvenile Arthritis
Case-Control Studies
Rheumatoid Arthritis
Population
Population Control
Rheumatoid Factor
Homozygote
Finland
Gene Frequency
Autoimmune Diseases
Alleles
Odds Ratio
Confidence Intervals
Amino Acids

Keywords

  • Juvenile idiopathic arthritis
  • PTPN 22
  • Rheumatoid arthritis

ASJC Scopus subject areas

  • Genetics(clinical)
  • Immunology
  • Genetics

Cite this

Finnish case-control and family studies support PTPN22 R620W polymorphism as a risk factor in rheumatoid arthritis, but suggest only minimal or no effect in juvenile idiopathic arthritis. / Seldin, Michael F; Shigeta, R.; Laiho, K.; Li, H.; Saila, H.; Savolainen, A.; Leirisalo-Repo, M.; Aho, K.; Tuomilehto-Wolf, E.; Kaarela, K.; Kauppi, M.; Alexander, H. C.; Begovich, A. B.; Tuomilehto, J.

In: Genes and Immunity, Vol. 6, No. 8, 12.2005, p. 720-722.

Research output: Contribution to journalArticle

Seldin, MF, Shigeta, R, Laiho, K, Li, H, Saila, H, Savolainen, A, Leirisalo-Repo, M, Aho, K, Tuomilehto-Wolf, E, Kaarela, K, Kauppi, M, Alexander, HC, Begovich, AB & Tuomilehto, J 2005, 'Finnish case-control and family studies support PTPN22 R620W polymorphism as a risk factor in rheumatoid arthritis, but suggest only minimal or no effect in juvenile idiopathic arthritis', Genes and Immunity, vol. 6, no. 8, pp. 720-722. https://doi.org/10.1038/sj.gene.6364255
Seldin, Michael F ; Shigeta, R. ; Laiho, K. ; Li, H. ; Saila, H. ; Savolainen, A. ; Leirisalo-Repo, M. ; Aho, K. ; Tuomilehto-Wolf, E. ; Kaarela, K. ; Kauppi, M. ; Alexander, H. C. ; Begovich, A. B. ; Tuomilehto, J. / Finnish case-control and family studies support PTPN22 R620W polymorphism as a risk factor in rheumatoid arthritis, but suggest only minimal or no effect in juvenile idiopathic arthritis. In: Genes and Immunity. 2005 ; Vol. 6, No. 8. pp. 720-722.
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