Table of Contents Author Guidelines Submit a Manuscript
International Journal of Genomics
Volume 2017 (2017), Article ID 8753498, 5 pages
https://doi.org/10.1155/2017/8753498
Research Article

Association of PTPN22 Haplotypes (−1123G>C/+1858C>T) with Rheumatoid Arthritis in Western Mexican Population

1Instituto de Investigación en Ciencias Biomédicas, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, JAL, Mexico
2Servicio de Reumatología, OPD Hospital Civil de Guadalajara “Fray Antonio Alcalde”, Guadalajara, JAL, Mexico

Correspondence should be addressed to José Francisco Muñoz-Valle; moc.liamtoh@ralucelomaigoloib

Received 30 March 2016; Revised 6 November 2016; Accepted 18 December 2016; Published 22 January 2017

Academic Editor: Mohamed Salem

Copyright © 2017 Yeniley Ruiz-Noa et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. J. Ding, S. Eyre, and J. Worthington, “Genetics of RA susceptibility, what comes next?” RMD Open, vol. 1, no. 1, Article ID e000028, 2015. View at Publisher · View at Google Scholar
  2. S. Cohen, H. Dadi, E. Shaoul, N. Sharfe, and C. M. Roifman, “Cloning and characterization of a lymphoid-specific, inducible human protein tyrosine phosphatase, Lyp,” Blood, vol. 93, no. 6, pp. 2013–2024, 1999. View at Google Scholar · View at Scopus
  3. Y. Kochi, “Genetics of autoimmune diseases: perspectives from genome-wide association studies,” International Immunology, vol. 28, no. 4, pp. 155–161, 2016. View at Publisher · View at Google Scholar
  4. N. A. C. Tavares, M. M. S. Santos, R. Moura et al., “Association of TNF-α, CTLA4, and PTPN22 polymorphisms with type 1 diabetes and other autoimmune diseases in Brazil,” Genetics and Molecular Research, vol. 14, no. 4, pp. 18936–18944, 2015. View at Publisher · View at Google Scholar · View at Scopus
  5. A. B. Begovich, V. E. H. Carlton, L. A. Honigberg et al., “A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis,” The American Journal of Human Genetics, vol. 75, no. 2, pp. 330–337, 2004. View at Publisher · View at Google Scholar · View at Scopus
  6. N. Bottini, L. Musumeci, A. Alonso et al., “A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes,” Nature Genetics, vol. 36, no. 4, pp. 337–338, 2004. View at Publisher · View at Google Scholar · View at Scopus
  7. C. Kyogoku, C. D. Langefeld, W. A. Ortmann et al., “Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE,” American Journal of Human Genetics, vol. 75, no. 3, pp. 504–507, 2004. View at Publisher · View at Google Scholar · View at Scopus
  8. G. Orozco, D. Pascual-Salcedo, M. A. López-Nevot et al., “Auto-antibodies, HLA and PTPN22: susceptibility markers for rheumatoid arthritis,” Rheumatology, vol. 47, no. 2, pp. 138–141, 2008. View at Publisher · View at Google Scholar · View at Scopus
  9. A. Skórka, T. Bednarczukt, E. Bar-Andziak, J. Nauman, and R. Ploski, “Lymphoid tyrosine phosphatase (PTPN22/LYP) variant and Graves' disease in a Polish population: association and gene dose-dependent correlation with age of onset,” Clinical Endocrinology, vol. 62, no. 6, pp. 679–682, 2005. View at Publisher · View at Google Scholar · View at Scopus
  10. D. Smyth, J. D. Cooper, J. E. Collins et al., “Replication of an association between the lymphoid tyrosine phosphatase locus (LYP/PTPN22) with type 1 diabetes, and evidence for its role as a general autoimmunity locus,” Diabetes, vol. 53, no. 11, pp. 3020–3023, 2004. View at Publisher · View at Google Scholar · View at Scopus
  11. J. A. Hamerman, J. Pottle, M. Ni, Y. He, Z.-Y. Zhang, and J. H. Buckner, “Negative regulation of TLR signaling in myeloid cells-implications for autoimmune diseases,” Immunological Reviews, vol. 269, no. 1, pp. 212–227, 2016. View at Publisher · View at Google Scholar · View at Scopus
  12. G. Nabi, N. Akhter, M. Wahid et al., “Meta-analysis reveals PTPN22 1858C/T polymorphism confers susceptibility to rheumatoid arthritis in Caucasian but not in Asian population,” Autoimmunity, vol. 49, no. 3, pp. 197–210, 2016. View at Publisher · View at Google Scholar · View at Scopus
  13. G.-P. Tang, L. Hu, and Q.-H. Zhang, “PTPN22 1858C/T polymorphism is associated with rheumatoid arthritis susceptibility in Caucasian population: a meta-analysis,” Journal of Zhejiang University. Medical sciences, vol. 43, no. 4, pp. 466–473, 2014. View at Google Scholar · View at Scopus
  14. N. M. Torres-Carrillo, Y. Ruiz-Noa, G. E. Martínez-Bonilla et al., “The +1858C/T PTPN22 gene polymorphism confers genetic susceptibility to rheumatoid arthritis in Mexican population from the Western Mexico,” Immunology Letters, vol. 147, no. 1-2, pp. 41–46, 2012. View at Publisher · View at Google Scholar · View at Scopus
  15. J. Zhang, N. Zahir, Q. Jiang et al., “The autoimmune disease-associated PTPN22 variant promotes calpain-mediated Lyp/Pep degradation associated with lymphocyte and dendritic cell hyperresponsiveness,” Nature Genetics, vol. 43, no. 9, pp. 902–907, 2011. View at Publisher · View at Google Scholar · View at Scopus
  16. E. Kawasaki, T. Awata, H. Ikegami et al., “Systematic search for single nucleotide polymorphisms in a lymphoid tyrosine phosphatase gene (PTPN22): association between a promoter polymorphism and type 1 diabetes in Asian populations,” American Journal of Medical Genetics, vol. 140, no. 6, pp. 586–593, 2006. View at Publisher · View at Google Scholar · View at Scopus
  17. J. Huang, Y. Qiu, H. Li, D. Sun, J. Yang, and C. Yang, “A PTPN22 promoter polymorphism −1123G>C is associated with RA pathogenesis in Chinese,” Rheumatology International, vol. 32, no. 3, pp. 767–771, 2012. View at Publisher · View at Google Scholar
  18. X. Feng, Y.-Z. Li, Y. Zhang et al., “Association of the PTPN22 gene (−1123G > C) polymorphism with rheumatoid arthritis in Chinese patients,” Tissue Antigens, vol. 76, no. 4, pp. 297–300, 2010. View at Publisher · View at Google Scholar · View at Scopus
  19. O. Cinek, O. Hradsky, G. Ahmedov et al., “No independent role of the -1123 G > C and + 2740 A > G variants in the association of PTPN22 with type 1 diabetes and juvenile idiopathic arthritis in two Caucasian populations,” Diabetes Research and Clinical Practice, vol. 76, no. 2, pp. 297–303, 2007. View at Publisher · View at Google Scholar · View at Scopus
  20. M. Fichna, M. Zurawek, D. Januszkiewicz-Lewandowska, P. Fichna, and J. Nowak, “PTPN22, PDCD1 and CYP27B1 polymorphisms and susceptibility to type 1 diabetes in Polish patients,” International Journal of Immunogenetics, vol. 37, no. 5, pp. 367–372, 2010. View at Publisher · View at Google Scholar · View at Scopus
  21. M. K. Viken, M. Olsson, S. T. Flåm et al., “The PTPN22 promoter polymorphism -1123G>C association cannot be distinguished from the 1858C>T association in a Norwegian rheumatoid arthritis material,” Tissue Antigens, vol. 70, no. 3, pp. 190–197, 2007. View at Publisher · View at Google Scholar · View at Scopus
  22. L. I. Sakkas, D. P. Bogdanos, C. Katsiari, and C. D. Platsoucas, “Anti-citrullinated peptides as autoantigens in rheumatoid arthritis-relevance to treatment,” Autoimmunity Reviews, vol. 13, no. 11, pp. 1114–1120, 2014. View at Publisher · View at Google Scholar · View at Scopus
  23. F. van Gaalen, A. Ioan-Facsinay, T. W. J. Huizinga, and R. E. M. Toes, “The devil in the details: the emerging role of anticitrulline autoimmunity in rheumatoid arthritis,” The Journal of Immunology, vol. 175, no. 9, pp. 5575–5580, 2005. View at Publisher · View at Google Scholar · View at Scopus
  24. A. H. M. van der Helm-van Mil, J. Z. Wesoly, and T. W. J. Huizinga, “Understanding the genetic contribution to rheumatoid arthritis,” Current Opinion in Rheumatology, vol. 17, no. 3, pp. 299–304, 2005. View at Publisher · View at Google Scholar · View at Scopus
  25. D. Aletaha, T. Neogi, A. J. Silman et al., “Rheumatoid arthritis classification criteria: an American College of Rheumatology/European League Against Rheumatism collaborative initiative,” Arthritis Rheum, vol. 62, pp. 2569–2581, 2010. View at Publisher · View at Google Scholar
  26. J. R. Padilla-Gutiérrez, Y. Valle, M. Vázquez-Del Mercado, M. Maldonado, and J. F. Muñoz-Valle, “A new PCR-RFLP assay for -1123 G>C polymorphism in the PTPN22 gene: allele and genotype frequencies in a western Mexican population,” Clinical Chemistry and Laboratory Medicine, vol. 47, no. 4, pp. 491–493, 2009. View at Publisher · View at Google Scholar · View at Scopus
  27. M. Slatkin and L. Excoffier, “Testing for linkage disequilibrium in genotypic data using the Expectation-Maximization algorithm,” Heredity, vol. 76, no. 4, pp. 377–383, 1996. View at Publisher · View at Google Scholar · View at Scopus
  28. J.-E. Martín, B. Z. Alizadeh, M. A. González-Gay et al., “Evidence for PTPN22 R620W polymorphism as the sole common risk variant for rheumatoid arthritis in the 1p13.2 region,” Journal of Rheumatology, vol. 38, no. 11, pp. 2290–2296, 2011. View at Publisher · View at Google Scholar · View at Scopus
  29. W. R. Wan Taib, D. J. Smyth, M. E. Merriman et al., “The PTPN22 locus and rheumatoid arthritis: no evidence for an effect on risk independent of Arg620Trp,” PLoS ONE, vol. 5, no. 10, Article ID e13544, 2010. View at Publisher · View at Google Scholar · View at Scopus
  30. M. Zoledziewska, C. Perra, V. Orrù et al., “Further evidence of a primary, causal association of the PTPN22 620W variant with type 1 diabetes,” Diabetes, vol. 57, no. 1, pp. 229–234, 2008. View at Publisher · View at Google Scholar · View at Scopus