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Association analysis of the PTPN22 gene in childhood-onset systemic lupus erythematosus in Mexican population

Abstract

Several studies have identified a functional single nucleotide polymorphism 1858C/T in the PTPN22 gene to be associated with several autoimmune diseases. Association studies of this polymorphism with familial and sporadic systemic lupus erythematosus (SLE) have shown some discrepancies. To our knowledge, this is the first study that includes only pediatric-onset SLE patients. We performed a case–control association study in 250 unrelated Mexican patients with childhood-onset SLE consisting of 228 cases with sporadic SLE and 22 cases with familial SLE and 355 healthy controls. We observed a statistically significant difference in the frequency of the PTPN22 1858T allele between SLE patients (3.4%) and healthy controls (1.1%) (P=0.0062, odds ratio (OR) 3.09 (95% confidence interval 1.32–7.21)). The association was also observed when only sporadic cases were analyzed (OR=3.19). Our results support the association of the PTPN22 1858T allele with sporadic childhood-onset SLE in Mexican population.

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References

  1. Alarcón-Segovia D, Alarcón-Riquelme ME, Cardiel MH, Caeiro F, Massardo L, Villa AR et al. Familial aggregation of systemic lupus erythematosus, rheumatoid arthritis, and other autoimmune diseases in 1, 177 lupus patients from the GLADEL cohort. Arthritis Rheum 2005; 52: 1138–1147.

    Article  Google Scholar 

  2. Becker KG, Simon RM, Bailey-Wilson JE, Freidlin B, Biddison HF, McFarland HF et al. Clustering of non-major histocompatibility complex susceptibility candidate loci in human autoimmune diseases. Proc Natl Acad Sci 1998; 95: 9979–9984.

    Article  CAS  Google Scholar 

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

    Article  CAS  Google Scholar 

  4. Onengut-Gumuscu S, Ewens KG, Spielman RS, Concannon P . A functional polymorphism (1858C/T) in the PTPN22 gene is linked and associated with type I diabetes in multiplex families. Genes Immun 2004; 5: 678–680.

    Article  CAS  Google Scholar 

  5. Begovich AB, Carlton VE, Honigberg LA, Schrodi SJ, Chokkalingam AP, Alexander HC et al. A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. Am J Hum Genet 2004; 75: 330–337.

    Article  CAS  Google Scholar 

  6. Van Oene M, Wintle RF, Liu X, Yazdanpanah M, Gu X, Newman B et al. Association of the lymphoid tyrosine phosphatase R620Wvariant with rheumatoid arthritis, but not Crhon's disease, in Canadian populations. Arthritis Rheum 2005; 52: 1993–1998.

    Article  CAS  Google Scholar 

  7. Kyogoku C, Langefeld CD, Ortmann WA, Lee A, Selby S, Carlton VE et al. Genetic association of the R620W C/T polymorphism of protein tyrosine phosphatase PTPN22 with human SLE. Am J Hum Genet 2004; 75: 504–507.

    Article  CAS  Google Scholar 

  8. Orozco G, Sanchez E, Gonzalez-Gay MA, Lopez-Nevot MA, Torres B, Caliz R et al. Association of a functional single-nucleotide polymorphism of PTPN22, encoding lymphoid protein phosphatase, with rheumatoid arthritis and systemic lupus erythematosus. Arthritis Rheum 2005; 52: 219–224.

    Article  CAS  Google Scholar 

  9. Reddy MV, Johan M, Sturfelt G, Jonsen A, Gunnarsson I, Svenungsson E et al. The R620W C/T polymorphism of the gene PTPN22 is associated with SLE independently of the association of PDCD1. Genes Immun 2005; 6: 658–662.

    Article  CAS  Google Scholar 

  10. Gomez LM, Anaya JM, Gonzalez CI, Pineda-Tamayo R, Otero W, Arango A et al. PTPN22 C1858T polymorphism in Colombian patients with autoimmune disease. Genes Immun 2005; 6: 628–631.

    Article  CAS  Google Scholar 

  11. Velaga MR, Wilson V, Jennings CE, Owen CJ, Herington S, Donaldson PT et al. The codon 620 thryptophan allele of the lymphoid tyrosine phosphatase (LYP) gene is a major determinant of Graves' disease. J Clin Endocrinol Metab 2004; 89: 5862–5865.

    Article  CAS  Google Scholar 

  12. Criswell LA, Pfeiffer KA, Lum RF, Gonzalez B, Novitzke J, Kern M et al. Analysis of families in the Multiple Autoimmune Disease Genetics Consortium (MADGC) collection: the PTPN22 620 W allele associates with multiple autoimmune phenotypes. Am J Hum Genet 2005; 76: 561–571.

    Article  CAS  Google Scholar 

  13. Viken MK, Amundsen SS, Kvien TK, Boberg KM, Gilboe IM, Lilleby V et al. Association analysis of the 1858C>T polymorphism in the PTPN22 gene in juvenile idiopathic arthritis and other autoimmune diseases. Genes Immun 2005; 6: 271–273.

    Article  CAS  Google Scholar 

  14. Hinks A, Barton A, John S, Bruece I, Hawkins C, Griffiths CEM et al. Association between the PTPN22 gene and rheumatoid arthritis and juvenile idiopathic arthritis in a UK population. Arthritis Rheum 2005; 52: 1694–1699.

    Article  CAS  Google Scholar 

  15. Clutier JF, Veillette A . Cooperative inhibition of T-cell antigen receptor signalling by a complex between a Kinase and a phosphatase. J Exp Med 1999; 189: 111–121.

    Article  Google Scholar 

  16. Hinks A, Worthington J, Thomson W . The association of PTPN22 with rheumatoid arthritis and juvenile idiopathic arthritis. Rheumatology 2006; 45: 365–368.

    Article  CAS  Google Scholar 

  17. Wu H, Cantor RM, Cunninghame Graham DS, Lingren CM, Farwell L, De Jager PL et al. Association analysis of the R620W polymorphism of protein tyrosine phosphatase PTPN22 in systemic lupus erythematosus families. Arthritis Rheum 2005; 52: 2396–2402.

    Article  CAS  Google Scholar 

  18. Kaufman KM, Kelly JA, Herring BJ, Adler AJ, Glen SB, Namjou B et al. Evaluation of the genetic association of the PTPN22 R620W polymorphism in familial and sporadic systemic lupus erythematosus. Arthritis Rheum 2006; 54: 2533–2540.

    Article  CAS  Google Scholar 

  19. Tan EM, Cohen AS, Fries JF, Masi AT, McShane DJ, Rothfield NF et al. The 1982 revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum 1982; 25: 1271–1277.

    Article  CAS  Google Scholar 

  20. Salari K, Choudhry S, Tang H, Naqvi M, Lind D, Avila PC et al. Genetic admixture and asthma-related phenotypes in Mexican American and Puerto Rican asthmatics. Genet Epidemiol 2005; 29: 76–86.

    Article  Google Scholar 

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Acknowledgements

We would like to thank the patients and their parents for their collaboration in this project. This study was supported by grants from the Consejo Nacional de Ciencia y Tecnología (CONACYT: SALUD-2004–01–153) and by the Instituto Mexicano del Seguro Social, Fondo para el Fomento a la Investigación Médica (FOFOI: FP-2003/014).

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Correspondence to L Orozco.

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Baca, V., Velázquez-Cruz, R., Salas-Martínez, G. et al. Association analysis of the PTPN22 gene in childhood-onset systemic lupus erythematosus in Mexican population. Genes Immun 7, 693–695 (2006). https://doi.org/10.1038/sj.gene.6364350

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