RESUMO
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.
Assuntos
Artrite Reumatoide/enzimologia , Artrite Reumatoide/genética , Diabetes Mellitus Tipo 1/enzimologia , Diabetes Mellitus Tipo 1/genética , Doença de Graves/enzimologia , Doença de Graves/genética , Proteína Tirosina Fosfatase não Receptora Tipo 22/genética , Estudos de Casos e Controles , Frequência do Gene , Predisposição Genética para Doença , Genótipo , Humanos , Polimorfismo de Nucleotídeo Único , Federação Russa , Transdução de Sinais/fisiologia , População Branca/genéticaRESUMO
Patients with thyreotoxicosis have variable clinical manifestations and various degree of cardiomyopathy which severity depends on many factors. Last years the genetic factors predicting development and clinical features of thyrotoxic symptoms and thyreotoxic cardiomyopathy became more evident. It is known, that production of T3 in various tissues including cardiac muscle is limited by deiodinase 2 (D2). Recent studies showed that certain polymorphisms, including Thr92Ala of D2 gene, are implicated in the development of thyrotoxic symptoms and thyreotoxic cardiomyopathy. Individuals with Ala92Ala genotype have lower D2 activity in tissues compared to other genotypes. In our study we focused on codon 92 polymorphism of D2 gene in relation to clinical manifestations of thyreotoxic cardiomyopathy and Echo-cardiography parameters in patients with Graves' disease.