Research Paper Volume 3, Issue 4 pp 368—373

Association of PTPN22 1858T/T genotype with type 1 diabetes, Graves' disease but not with rheumatoid arthritis in Russian population

Daria Zhebrun1, , Yulia Kudryashova2, , Alina Babenko2, , Alexei Maslyansky3, , Natalya Kunitskaya3, , Daria Popcova2, , Alexandra Klushina4, , Elena Grineva3, , Anna Kostareva4, , Evgeny Shlyakhto2,3,4, ,

  • 1 Laboratory of Immunology; Almazov Federal Heart, Blood and Endocrinology Center, Saint- Petersburg, Russia
  • 2 Institute of Endocrinology; Almazov Federal Heart, Blood and Endocrinology Center, Saint-Petersburg, Russia
  • 3 Department of rheumatology; Almazov Federal Heart, Blood and Endocrinology Center, Saint-Petersburg, Russia
  • 4 Institute of Molecular Biology and Genetics; Almazov Federal Heart, Blood and Endocrinology Center, Saint-Petersburg, Russia

Received: March 23, 2011       Accepted: April 4, 2011       Published: April 6, 2011
How to Cite

Copyright: © 2011 Zhebrun et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.


The protein tyrosine phosphatase nonreceptor 22 gene (PTPN22) is an important negative regulator of signal transduction through the T-cell receptors (TCR). Recently a single-nucleotide polymorphism (SNP) 1858 C/T within this gene was shown to be a risk factor for several autoimmune diseases, such as rheumatoid arthritis (RA), Graves' Disease (GD), systemic lupus erythematosus (SLE), Wegener's granulomatosis (WG) and type 1 diabetes mellitus (T1D). The aim of this study was to analyze a possible association between 1858 C/T SNP and a number of autoimmune diseases, including RA, GD and T1D in Russian population. Patients with T1D, GD, RA and healthy controls were genotyped for the 1858 C/T SNP in PTPN22 gene. We found a significant association between PTPN22 1858 C/T SNP and T1D and GD. 1858T/T genotype was observed more frequently in T1D and GD patients compared to control subjects. No such association was observed for RA. In concordance with a previous data establishing PTPN22 1858 C/T SNP association with several autoimmune diseases, our findings provide further evidence that the PTPN22 gene may play an important role in the susceptibility to some autoimmune diseases.


PTPN22: protein tyrosine phosphatase nonreceptor 22 gene; TCR: T-cell receptors; SNP: single-nucleotide polymorphism; RA: rheumatoid arthritis; GD: Graves' disease; SLE: systemic lupus erythematosus; WG: Wegener's granulomatosis; T1D: type 1 diabetes mellitus; RFLP: restriction fragment length polymorphism; MS: multiple sclerosis; MHC: major histocompatibility complex; CTLA-4: cytotoxic T-lymphocyte-associated antigen 4; TNF: tumor necrosis factor; LYP: lymphoid protein tyrosine phosphatase; CSK: C-terminal Src Kinase; OR: odds ratio; ZAP-70: zeta-chain (TCR) associated protein kinase 70kDa; IL2RA: interleukin-2 receptor alpha; TSH: thyroid-stimulating hormone; dNTP: deoxynucleotide triphosphate.