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PTPN22 C1858T polymorphism in Colombian patients with autoimmune diseases

Genes & Immunity volume 6, pages 628–631 (2005)Cite this article

Abstract

A functional single nucleotide polymorphism (SNP) C1858T in the protein tyrosine phosphatase nonreceptor 22 (PTPN22) gene encoding an intracellular phosphatase with negative regulatory effects on T-cell activation is associated with some autoimmune diseases in Caucasians. Taking into account firstly, that SNP frequencies may vary across populations and, secondly, that replication studies are important to confirm previous associations, we examined the influence of PTPN22 polymorphism in 621 Colombian patients with four autoimmune diseases. Accordingly, 298 patients with rheumatoid arthritis (RA), 143 with systemic lupus erythematosus (SLE), 70 with primary Sjogren's syndrome (pSS) and 110 with Type 1 diabetes (T1D) were studied. The control group consisted of 308 matched healthy individuals. Genotyping of PTPN22 was performed by the real-time polymerase chain reaction technology, using the TaqMan 5′-allele discrimination assay. The 1858 T allele was found to be a risk factor for pSS (odds ratio (OR)=2.42), SLE (OR=2.56), and T1D (OR=1.83). A lower but nonsignificant trend was observed for RA (OR=1.26). These results confirm the influence of PTPN22 in autoimmunity and indicate that autoimmune phenotypes could represent pleiotropic outcomes of nonspecific disease genes that underlie similar immunogenetic mechanisms.

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Acknowledgements

We are indebted to all the members of the Cellular Biology and Immunogenetics Unit at the CIB and to the Diabetes Study Group for their contribution to this work. LMG is supported in part by a grant from TCC, Colombia. This work was supported by Plan Nacional de I+D (grant SAF03-3460) and in part by a grant from ColCiencias code 11020412905.

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Author notes

  1. L M Gomez and J-M Anaya: Both authors contributed equally and should be considered as first authors.

Authors and Affiliations

  1. Cellular Biology and Immunogenetics Unit (CBIU), Corporación para Investigaciones Biológicas (CIB) and Universidad de Antioquia, Medellin, Colombia, CSIC, Granada, Spain

    L M Gomez

  2. Instituto de Parasitología y Biomedicina Lopez-Neyra, CSIC, Granada, Spain

    L M Gomez

  3. CBIU, CIB, Universidad del Rosario, Medellin, Colombia

    J-M Anaya

  4. Molecular Epidemiology and Immunology, Health Faculty, Universidad Industrial de Santander, UIS, Bucaramanga, Colombia

    C I Gonzalez & W Otero

  5. Clinica Universitaria Bolivariana, Universidad Pontificia Bolivariana, Medellin, Colombia

    R Pineda-Tamayo & A Arango

  6. Instituto de Parasitología y Biomedicina Lopez-Neyra, CSIC, Granada, Spain

    J Martín

Authors
  1. L M Gomez
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  2. J-M Anaya
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  3. C I Gonzalez
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  4. R Pineda-Tamayo
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  5. W Otero
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  6. A Arango
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  7. J Martín
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Corresponding author

Correspondence to J Martín.

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Gomez, L., Anaya, JM., Gonzalez, C. et al. PTPN22 C1858T polymorphism in Colombian patients with autoimmune diseases. Genes Immun 6, 628–631 (2005). https://doi.org/10.1038/sj.gene.6364261

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  • DOI: https://doi.org/10.1038/sj.gene.6364261

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