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Rheumatology Advance Access published online on June 7, 2006
Rheumatology, doi:10.1093/rheumatology/kel170
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© The Author 2006. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org The online version of this article has been published under an open access model. Users are entitled to use, reproduce, disseminate, or display the open access version of this article for non-commercial purposes provided that: the original authorship is properly and fully attributed; the Journal and Oxford University Press are attributed as the original place of publication with the correct citation details given; if an article is subsequently reproduced or disseminated not in its entirety but only in part or as a derivative work this must be clearly indicated. For commercial re-use, please contact journals.permissions@oxfordjournals.org
Received December 29, 2005
Accepted April 11, 2006

Original Papers

The PTPN22 C1858T functional polymorphism and autoimmune diseases--a meta-analysis

Y. H. Lee 1 *, Y. H. Rho 1, S. J. Choi 1, J. D. Ji 1, G. G. Song 1, S. K. Nath 2, and J. B. Harley 3

1 Division of Rheumatology, Department of Internal Medicine, Korea University Medical Center, College of Medicine, Korea University, Seoul, Korea
2 Arthritis and Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA; Genetic Epidemiology Unit, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA; University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA
3 Arthritis and Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA; Genetic Epidemiology Unit, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA; University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA; US Department of Veterans Affairs Medical Center, Oklahoma City, OK, USA

* To whom correspondence should be addressed.
Y. H. Lee, E-mail: lyhcgh{at}korea.ac.kr


  Abstract

Objective. To assess whether combined evidence shows the association between the protein tyrosine phosphatase non-receptor 22 (PTPN22) C1858T polymorphism and autoimmune diseases, and to summarize the effect size of the polymorphism associated with susceptibility of autoimmune diseases.

Methods. We surveyed studies on the PTPN22 C1858T polymorphism and autoimmune diseases using comprehensive Medline search and review of the references. Meta-analysis was performed for genotypes T/T (recessive effect), T/T + C/T (dominant effect) and T-allele in random effects models.

Results. Twenty-nine studies with 43 comparisons including 13 rheumatoid arthritis (RA), six systemic lupus erythematosus (SLE), six type-1 DM (T1D), three Grave's disease (GD), four inflammatory bowel diseases (IBD), three juvenile idiopathic arthritis (JIA), two psoriasis, two multiple sclerosis, two Addison's disease and two Celiac disease were available for the meta-analysis. The overall odds ratios (ORS) for T-allele, T/T and T/T + C/T genotypes were significantly increased in RA, SLE, GD and T1D (OR for T-allele = 1.58, 1.49, 1.85, 1.61, respectively, P < 0.00001). This meta-analysis showed the association between the T-allele and the T/T genotype and JIA (OR = 1.34, P = 0.03; OR = 1.97, P = 0.02) but did not reveal the association between the PTPN22 C1858T polymorphism and IBD, psoriasis, multiple sclerosis, Addison's disease and Celiac disease.

Conclusion. This meta-analysis demonstrates that the PTPN22 1858T allele confers susceptibility to RA, SLE, GD, T1D and JIA, supporting evidence of association of the PTPN22 gene with subgroup of autoimmune diseases.

Keywords: PTPN22; Autoimmune diseases; Meta-analysis.
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