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The association between the PTPN22 C1858T polymorphism and systemic sclerosis: a meta-analysis

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Abstract

The aim of this study was to determine whether the functional protein tyrosine phosphatase nonreceptor 22 (PTPN22) C1858T polymorphism (rs2476601) confers susceptibility to systemic sclerosis (SSc) in different ethnic populations. A meta-analysis was conducted on the PTPN22 C1858T polymorphism across twelve comparative studies containing 4,367 SSc patients and 4,771 normal control subjects. The analysis showed an association between the PTPN22 1858T allele and SSc in all study subjects (OR [odds ratio] 1.169, 95% confidence interval [CI] 1.051, 1.300, P = 0.004). Analysis after stratification by ethnicity indicated that the PTPN22 1858T allele was significantly associated with SSc in Europeans (OR 1.147, 95% CI 1.029, 1.278, P = 0.013), and analysis showed an association between the T allele and SSc in anti-centromere antibody (ACA)-positive European subjects (OR 1.220, 95% CI 1.051, 1.417, P = 0.009). However, no association was found between the allele and anti-topoisomerase antibody (ATA)-positive SSc European patients (OR 1.1786, 95% CI 0.979, 1.417, P = 0.083). In addition, African Americans were found to have a much lower prevalence of the T allele (1.5%) than any other population studied, and Europeans had the highest prevalence (8.2%). This meta-analysis confirms that the PTPN22 C1858T polymorphism is associated with SSc susceptibility and ACA status in Europeans, and that its prevalence is dependent on ethnicity.

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References

  1. Gabrielli A, Avvedimento EV, Krieg T (2009) Scleroderma. N Engl J Med 360(19):1989–2003

    Article  PubMed  CAS  Google Scholar 

  2. Arnett FC (2006) Is scleroderma an autoantibody mediated disease? Curr Opin Rheumatol 18(6):579–581

    Article  PubMed  CAS  Google Scholar 

  3. Cloutier JF, Veillette A (1999) Cooperative inhibition of T-cell antigen receptor signaling by a complex between a kinase and a phosphatase. J Exp Med 189(1):111–121

    Article  PubMed  CAS  Google Scholar 

  4. Bottini N, Musumeci L, Alonso A, Rahmouni S, Nika K, Rostamkhani M et al (2004) A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. Nat Genet 36(4):337–338

    Article  PubMed  CAS  Google Scholar 

  5. Diaz-Gallo LM, Gourh P, Broen J, Simeon C, Fonollosa V, Ortego-Centeno N et al (2011) Analysis of the influence of PTPN22 gene polymorphisms in systemic sclerosis. Ann Rheum Dis 70(3):454–462

    Article  PubMed  CAS  Google Scholar 

  6. Dieude P, Guedj M, Wipff J, Avouac J, Hachulla E, Diot E et al (2008) The PTPN22 620 W allele confers susceptibility to systemic sclerosis: findings of a large case-control study of European Caucasians, a meta-analysis. Arthritis Rheum 58(7):2183–2188

    Article  PubMed  CAS  Google Scholar 

  7. Gourh P, Tan FK, Assassi S, Ahn CW, McNearney TA, Fischbach M et al (2006) Association of the PTPN22 R620 W polymorphism with anti-topoisomerase I-and anticentromere antibody-positive systemic sclerosis. Arthritis Rheum 54(12):3945–3953

    Article  PubMed  CAS  Google Scholar 

  8. Balada E, Simeon-Aznar CP, Serrano-Acedo S, Martinez-Lostao L, Selva-O’Callaghan A, Fonollosa-Pla V et al (2006) Lack of association of the PTPN22 gene polymorphism R620 W with systemic sclerosis. Clin Exp Rheumatol 24(3):321–324

    PubMed  CAS  Google Scholar 

  9. Egger M, Davey Smith G, Schneider M, Minder C (1997) Bias in meta-analysis detected by a simple, graphical test. BMJ. 315(7109):629–634

    Article  PubMed  CAS  Google Scholar 

  10. Davey Smith G, Egger M (1997) Meta-analyses of randomised controlled trials. Lancet 350(9085):1182

    Article  PubMed  CAS  Google Scholar 

  11. Egger M, Smith GD, Phillips AN (1997) Meta-analysis: principles and procedures. BMJ 315(7121):1533–1537

    Article  PubMed  CAS  Google Scholar 

  12. DerSimonian R, Laird N (1986) Meta-analysis in clinical trials. Control Clin Trials 7(3):177–188

    Article  PubMed  CAS  Google Scholar 

  13. Higgins JP, Thompson SG (2002) Quantifying heterogeneity in a meta-analysis. Stat Med 21(11):1539–1558

    Article  PubMed  Google Scholar 

  14. Wipff J, Allanore Y, Kahan A, Meyer O, Mouthon L, Guillevin L et al (2006) Lack of association between the protein tyrosine phosphatase non-receptor 22 (PTPN22)*620 W allele, systemic sclerosis in the French Caucasian population. Ann Rheum Dis 65(9):1230–1232

    Article  PubMed  CAS  Google Scholar 

  15. Lee YH, Rho YH, Choi SJ, Ji JD, Song GG, Nath SK et al (2007) The PTPN22 C1858T functional polymorphism, autoimmune diseases–a meta-analysis. Rheumatol (Oxford) 46(1):49–56

    Article  CAS  Google Scholar 

  16. Orru V, Tsai SJ, Rueda B, Fiorillo E, Stanford SM, Dasgupta J et al (2009) A loss-of-function variant of PTPN22 is associated with reduced risk of systemic lupus erythematosus. Hum Mol Genet 18(3):569–579

    Article  PubMed  CAS  Google Scholar 

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Correspondence to Young Ho Lee.

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Lee, Y.H., Choi, S.J., Ji, J.D. et al. The association between the PTPN22 C1858T polymorphism and systemic sclerosis: a meta-analysis. Mol Biol Rep 39, 3103–3108 (2012). https://doi.org/10.1007/s11033-011-1074-x

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  • DOI: https://doi.org/10.1007/s11033-011-1074-x

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