May 2008
Volume 49, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2008
Analysis of the PTPN22 R620W Polymorphism in Subjects With Acute Anterior Uveitis
Author Affiliations & Notes
  • N. C. Modi
    Ophthalmology, Guy's and St Thomas' Hospital, London, United Kingdom
  • M. R. Stanford
    Ophthalmology, Guy's and St Thomas' Hospital, London, United Kingdom
  • R. Vaughan
    Ophthalmology, Guy's and St Thomas' Hospital, London, United Kingdom
  • J. R. Smith
    Ophthalmology, Oregon Health & Science University, Portland, Oregon
  • J. T. Rosenbaum
    Ophthalmology, Oregon Health & Science University, Portland, Oregon
  • N. K. Wade
    Ophthalmology, University of British Columbia, Vancouver, British Columbia, Canada
  • F. Mackensen
    Ophthalmology, University of Heidelberg, Heidelberg, Germany
  • T. M. Martin
    Ophthalmology, Oregon Health & Science University, Portland, Oregon
  • G. R. Wallace
    Academic Unit of Ophthalmology, University of Birmingham, Birmingham, United Kingdom
  • Footnotes
    Commercial Relationships  N.C. Modi, None; M.R. Stanford, None; R. Vaughan, None; J.R. Smith, None; J.T. Rosenbaum, None; N.K. Wade, None; F. Mackensen, None; T.M. Martin, None; G.R. Wallace, None.
  • Footnotes
    Support  NEI EY13139; Research to Prevent Blindness awards to JTR, JRS, TMM, and the Casey Eye Institute.
Investigative Ophthalmology & Visual Science May 2008, Vol.49, 1716. doi:https://doi.org/
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      N. C. Modi, M. R. Stanford, R. Vaughan, J. R. Smith, J. T. Rosenbaum, N. K. Wade, F. Mackensen, T. M. Martin, G. R. Wallace; Analysis of the PTPN22 R620W Polymorphism in Subjects With Acute Anterior Uveitis. Invest. Ophthalmol. Vis. Sci. 2008;49(13):1716. doi: https://doi.org/.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose: : A polymorphism (rs2476601) encoding the arginine to tryptophan change at amino acid 620 (R620W) of protein tyrosine phosphatase type 22 (PTPN22) is known to contribute to genetic risk of autoimmunity. This variant has been associated with several common autoimmune diseases, including Graves’ disease, rheumatoid arthritis, and type 1 diabetes, and recently found to be inversely associated with a UK cohort of Behcet’s disease. Acute anterior uveitis (AAU) is the most common form of immune-mediated uveitis, and is highly associated with HLA-B27 and spondyloarthritis. In this study, we sought to determine if PTPN22 R620W contributes to AAU.

Methods: : This research was conducted under human subjects protocols approved by the OHSU and UB ethics committees. Genomic DNA was extracted from whole blood obtained from healthy controls and subjects with AAU. The diagnostic validation of AAU was based on ophthalmology chart review by JRS. Genotyping of PTPN22 R620W was performed by SSP-PCR and analysed using the Fisher’s exact test.

Results: : One hundred forty subjects with AAU (78 female, 62 male) and 92 healthy controls (54 female, 38 male) were included in the analysis. The majority of each group were Caucasian by self-report: 133/140 AAU and 81/92 controls. Of the 140 with AAU, 76 had no history of ankylosing spondylitis (AS), while 58 had a diagnosis and the remaining 6 subjects were considered to have probable or early signs of AS. The R620W variant allele frequency was 9.8% in the healthy control cohort, which was similar to a UK control cohort and other published reports. This was higher than the variant allele frequency found in the AAU group (6.5%), but this difference was not statistically significant (p=0.217). By restricting the analysis to Caucasian samples, the variant allele frequency was 11.1% and 6.8%, in controls and AAU, respectively (p=0.151). Furthermore, sub-analysis of only those AAU subjects without AS revealed no difference between controls (9.8%) and cases (9.21%, p=1.000).

Conclusions: : In a predominantly Caucasian cohort, PTPN22 R620W does not associate with AAU. A slight trend toward an inverse relationship was noted, but this result was not statistically different. A larger cohort would be needed to determine if this observation may be significant.

Keywords: genetics • uveitis-clinical/animal model • autoimmune disease 
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