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


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.