title: Association of PTPN22 1858T/T genotype with type 1 diabetes, Graves' disease but not with rheumatoid arthritis in Russian population.
abstract: 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.
authors.affiliation: Laboratory of Immunology, Almazov Federal Heart, Blood and Endocrinology Center, Saint-Petersburg, Russia.
authors.forename: Daria
authors.initials: D
authors.lastname: Zhebrun
authors.forename: Yulia
authors.initials: Y
authors.lastname: Kudryashova
authors.forename: Alina
authors.initials: A
authors.lastname: Babenko
authors.forename: Alexei
authors.initials: A
authors.lastname: Maslyansky
authors.forename: Natalya
authors.initials: N
authors.lastname: Kunitskaya
authors.forename: Daria
authors.initials: D
authors.lastname: Popcova
authors.forename: Alexandra
authors.initials: A
authors.lastname: Klushina
authors.forename: Elena
authors.initials: E
authors.lastname: Grineva
authors.forename: Anna
authors.initials: A
authors.lastname: Kostareva
authors.forename: Evgeny
authors.initials: E
authors.lastname: Shlyakhto
mesh_terms: D001172:Arthritis, Rheumatoid / Q000201:enzymology* / Q000235:genetics*; D016022:Case-Control Studies; D003922:Diabetes Mellitus, Type 1 / Q000201:enzymology* / Q000235:genetics*; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006111:Graves Disease / Q000201:enzymology* / Q000235:genetics*; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22 / Q000235:genetics*; D012426:Russia; D015398:Signal Transduction / Q000502:physiology; D044465:White People / Q000235:genetics
chemical_list: C516765:PTPN22 protein, human; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22