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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 & Immunity volume 6, pages 720–722 (2005)Cite this article

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.

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Authors and Affiliations

  1. Departments of Biochemistry and Medicine, Rowe Program in Genetics, University California Davis, Davis, CA, USA

    M F Seldin, R Shigeta & H Li

  2. Rheumatism Foundation Hospital, Heinola, Finland

    K Laiho, H Saila, A Savolainen, K Kaarela & M Kauppi

  3. Department of Medicine, Helsinki University Hospital, Helsinki, Finland

    M Leirisalo-Repo

  4. Department of Health and Disability, National Public Health Institute, Helsinki, Finland

    K Aho

  5. Department of Epidemiology and Health Promotion, National Public Health Institute, Helsinki, Finland

    E Tuomilehto-Wolf & J Tuomilehto

  6. Celera Diagnostics, Alameda, CA, USA

    H C Alexander & A B Begovich

  7. South Ostrobothnia Central Hospital, Seinajoki, Finland

    J Tuomilehto

Authors
  1. M F Seldin
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  2. R Shigeta
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  3. K Laiho
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  4. H Li
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  5. H Saila
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  6. A Savolainen
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  7. M Leirisalo-Repo
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  8. K Aho
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  9. E Tuomilehto-Wolf
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  10. K Kaarela
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  11. M Kauppi
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  12. H C Alexander
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  13. A B Begovich
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  14. J Tuomilehto
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Correspondence to M F Seldin.

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Seldin, M., Shigeta, R., Laiho, K. et al. 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 Immun 6, 720–722 (2005). https://doi.org/10.1038/sj.gene.6364255

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  • DOI: https://doi.org/10.1038/sj.gene.6364255

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