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Association of PTPN22 gene polymorphism and systemic lupus erythematosus in a cohort of Egyptian patients: impact on clinical and laboratory results

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Abstract

To assess the possible association between the protein tyrosine phosphatases non-receptor 22 (PTPN22) gene 1858 CT polymorphism and the predisposition to systemic lupus erythematosus (SLE) in Egyptian patients and its influence on clinical and laboratory parameters. PTPN22 gene 1858 CT polymorphisms were analyzed in forty SLE patients and 20 normal controls by real-time polymerase chain reaction (PCR) technology, using the TaqMan 5-allele discrimination assay. Detailed history, clinical examination, and investigations were done to detect various organ involvement. The homozygous genotype TT was absent in both SLE and controls. The CC genotype was observed in 47.5% SLE and 80% controls; the CT genotype was found in 52.5% patients and 20% controls. The frequencies of the C and T alleles were 74 and 26% in SLE and 90 and 10% in controls, respectively. The presence of CT genotype increased the risk for developing SLE by 4.42. Renal involvement was significantly higher in SLE patients with CT (76.2%) compared to those with CC genotype (42.1%).

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References

  1. Wakeland EK, Liu K, Graham R, Behrens TW (2001) Delineating the genetic basis of systemic lupus erythematosus. Immunity 15(3):397–408

    Article  PubMed  CAS  Google Scholar 

  2. Gomez LM, Anaya J-M, Gonzalez CI, Pineda-Tamayo R, Otero W, Arango A (2005) PTPN22 C1858T polymorphism in Colombian patients with autoimmune diseases. Genes and Immunity 6:628–631

    Article  PubMed  CAS  Google Scholar 

  3. Sahin N, Aksu K, Kamal S, Bicakcigil M, Özbalkan Z, Fresko I, Özer H, Akar S, Onat AM, Obankara VC, Kiraz S, Öztürk MA, Tunc E, Yücel E, Ates A, Keser G, Inanc M, Direskeneli H, Saruhan-Direskeneli G (2008) PTPN22 gene polymorphism in Takayasu’s arteritis. For RAED Vasculitis Study Group, Turkey. Rheumatology 47:634–635

    Article  PubMed  CAS  Google Scholar 

  4. Sfar I, Ben Aleya W, Mouelhi L, Aouadi H, Ben Rhomdhane T, Makhlouf M, Ayed-Jendoubi S, Gargaoui H, Najjar T, Ben Abdallah T, Ayed K, Gorgi Y (2010) Lymphoid tyrosine phosphatase R620 W variant and inflammatory bowel disease in Tunisia. World J Gastroenterol 16(4):479–483

    Article  PubMed  CAS  Google Scholar 

  5. Chabchoub G, Teixiera EP, Maalej A, Ben Hamad M, Bahloul Z, Cornelis F, Ayadi H (2009) The R620 W polymorphism of the protein tyrosine phosphatase 22 gene in autoimmune thyroid diseases and rheumatoid arthritis in the Tunisian population. Ann Hum Biol 36(3):342–439

    Article  PubMed  Google Scholar 

  6. Ittah M, Gottenberg J-E, Proust A, Hachulla E, Puechal X, Loiseau P, Mariette X, Miceli-Richard C (2005) No evidence for association between 1858 C/T single-nucleotide polymorphism of PTPN22 gene and primary Sjögren’s syndrome. Genes Immun 6(5):457–458

    Article  PubMed  CAS  Google Scholar 

  7. Viken MK, Amundsen SS, Kvien TK, Boberg KM, Gilboe IM, Lilleby V, Sollid LM, Førre ØT, Thorsby E, Smerdel A, Lie BA (2005) Association analysis of the 1858C > T polymorphism in the PTPN22 gene in juvenile idiopathic arthritis and other autoimmune diseases. Genes and Immunity 6:271–273. doi:10.1038/sj.gene.6364178 Published online 10 March 2005

    Article  PubMed  CAS  Google Scholar 

  8. Tan EM, Cohen AS, Fries JF et al (1982) The 1982 revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum 25:1271–1277

    Article  PubMed  CAS  Google Scholar 

  9. Bombardier C, Gladman DD, Urowitz MB, Caron D, Chang CH (1992) Derivation of the SLEDAI. A disease activity index for lupus patients. The Committee on Prognosis Studies in SLE. Arthritis Rheum 35:630–640

    Article  PubMed  CAS  Google Scholar 

  10. Gladman D, Ginzler E, Goldsmith C et al (1996) The development and initial validation of the Systemic Lupus International Collaborating Clinics/American College of Rheumatology damage index for systemic lupus erythematosus. Arthritis Rheum 39:363–369

    Article  PubMed  CAS  Google Scholar 

  11. Bianco B, Verreschi IT, Oliveira KC, Guedes AD, Galera BB, Galera MF, Barbosa CP, Lipay MV (2010) PTPN22 polymorphism is related to autoimmune disease risk in patients with Turner syndrome. Scand J Immunol 72(3):256–259

    Article  PubMed  CAS  Google Scholar 

  12. QIAmp DNA blood Mini Kits and QIAmp DNA Blood Mini Kit handbook.Qiagen.Gemany.www.qiagen.com

  13. Peng S, Craft J (2005) Antinuclear antibodies. In: Ruddy Sh, Harris E, Sledge C, Melone D (eds) Kelly’s textbook of rheumatology, 7th edn. Saunders, Melbourne, pp 161–172

    Google Scholar 

  14. Thomas L (1998) The complement system. In: Thomas L (ed) Clinical laboratory diagnostics. TH-Books Verlagsgesellschaft, Frankfurt, pp 794–806

    Google Scholar 

  15. Bain BJ, Lewis SM, Bates I (2006) Basic haematological technique. In: Lewis SM, Bates I (eds) Dacie and lewis practical haematology, 10th edn. Churchill Livingstone Publisher, Edinburgh, pp 25–57

    Chapter  Google Scholar 

  16. Newman DJ (2001) Non Protien nitrogen metabolites. In: Burtis CA, Ashwood ER (eds) Tietz fundamentals of clinical chemistry, 5th edn. Saunders, Melbourne, pp 419–422

    Google Scholar 

  17. Skarzynski CJ, Wu AH (2000) Renal Function. In: Bishop ML, Fody EP (eds) Clinical chemistry, principles, procedures and correlations, 4th edn. Lippincot Williams and Wilkins, Philadelphia, pp 447–448

    Google Scholar 

  18. Rothkrantz-K S, Bekers O, Gubbels A, Drent M, Schmitz M, van Dieijen-Visser M (2003) Evaluation of two new high-sensitivity C-reactive protein methods. Ann Clin Biochem 40:398–405

    Article  Google Scholar 

  19. Lewis SM (2001) Miscellaneous tests. In: Lewis SM, Bain BJ, Bates I (eds) Dacie and lewis practical haematology, 9th edn. Harcourt Publishers Limited, Boston, pp 527–529

    Google Scholar 

  20. Wu AH (2005) Renal function. In: Bishop ML, Fody EP (eds) Clinical chemistry, principles, procedures and correlations, 5th edn. Lippincot Williams and Wilkins, Philadelphia, pp 526–529

    Google Scholar 

  21. Norman GR, Streiner DL (2000) Biostatistics, the bare essentials, 2nd edn. BC Decker Inc, Hamilton

    Google Scholar 

  22. Kyogoku C, Langefeld CD, Ortmann WA, Lee A, Selby S, Carlton VE (2004) Report genetic association of the R620 W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE. Am J Hum Genet 75:504–507

    Article  PubMed  CAS  Google Scholar 

  23. Reddy MV, Johansson M, Sturfelt G, Jönsen A, Gunnarsson I, Svenungsson E, Rantapää-Dahlqvist S, Alarco′n-Riquelme ME (2005) The R620 W C/T polymorphism of the gene PTPN22 is associated with SLE independently of the association of PDCD1. Genes and Immunity 6:658–662

    PubMed  CAS  Google Scholar 

  24. Orozco G, Sánchez E, González-Gay MA, López-Nevot MA, Torres B, Cáliz R, Ortego-Centeno N, Jiménez-Alonso J, Pascual-Salcedo D, Balsa A, de Pablo R, Nun˜ez-Roldan A, González-Escribano MF, Martín J (2005) American College of Rheumatology. Association of a functional single-nucleotide polymorphism of PTPN22, Encoding lymphoid protein phosphatase, with rheumatoid arthritis and systemic lupus erythematosus. Arthritis Rheum 52:219–224. doi:10.1002/art.20771. © 2005

    Article  PubMed  CAS  Google Scholar 

  25. Wu H, Cantor RM, Graham DS, Lingren CM, Farwell L, de Jager PL, Bottini N, Grossman JM, Wallace DJ, Hahn BH, Julkunen H, Hebert LA, Rovin BH, Birmingham DJ, Rioux JD, Yu CY, Kere J, Vyse TJ, Tsao BP (2005) American College of rheumatology association analysis of the R620 W polymorphism of protein tyrosine phosphatase PTPN22 in systemic lupus erythematosus families increased T Allele frequency in systemic lupus erythematosus patients with autoimmune thyroid disease. Arthritis Rheum 52:2396–2402. doi:10.1002/art.21223. © 2005

    Article  PubMed  CAS  Google Scholar 

  26. Gladmann DD, Urowitz MB (2007) Prognosis, mortality and morbidity in systemic lupus erythematosus. In: Wallace DJ, Hahn BH (eds) Dubois lupus erythematosus, 7th edn. Lippincott Williams &Wilkins, Philadelphia, pp 1333–1353

    Google Scholar 

  27. Moss KE, Isenberg DA (2001) Comparison of renal disease severity and outcome in patients with primary antiphospholipid syndrome, antiphospholipid syndrome secondary to systemic lupus erythematosus (SLE) and SLE alone. Rheumatology 40:863–867

    Article  PubMed  CAS  Google Scholar 

  28. Wang Li-er PU, Wei-ping CZ, Dong-ping H (2006) Evaluation of Serum cystatin C in patients with systemic lupus erythematosus with renal dysfunction. Wannan Medical College ACTA Academiae Medicinae Wannan 25(4):268–270

    Google Scholar 

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Authors and Affiliations

  1. Department of Clinical Pathology, Faculty of Medicine, Alexandria University, Alexandria, Egypt

    Pacint Moez

  2. Department of Internal Medicine and Rheumatology, Faculty of Medicine, Alexandria University, Alexandria, Egypt

    Eiman Soliman

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  1. Pacint Moez
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Correspondence to Pacint Moez.

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Moez, P., Soliman, E. Association of PTPN22 gene polymorphism and systemic lupus erythematosus in a cohort of Egyptian patients: impact on clinical and laboratory results. Rheumatol Int 32, 2753–2758 (2012). https://doi.org/10.1007/s00296-011-2063-z

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  • DOI: https://doi.org/10.1007/s00296-011-2063-z

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