Association of protein tyrosine phosphatase non receptor type 22 (PTPN22) C1858T gene polymorphism with type 1 diabetes mellitus in Egyptian children cohort

Background: The protein tyrosine phosphatase non receptor 22 gene (PTPN22) is an important negative regulator of signal transduction through the T-cell receptors. Recently a single-nucleotide polymorphism (SNP) 1858 C/T within this gene was shown to be a risk factor for several autoimmune diseases. Aim: To analyze a possible association between 1858 C/T SNP and T1DM in Egyptian cohort. Patients and methods: Patients with T1DM and healthy controls were genotyped for the 1858 C/T SNP in PTPN22 gene. Results: A non-significant association between PTPN22 1858 C/T SNP and T1DM was found. 1858T/T genotype was not observed more frequently in T1DM patients compared to control subjects. Conclusion: In concordance with previous data establishing PTPN22 1858 C/T SNP association with several autoimmune diseases, our findings deny further evidence that the PTPN22 gene may play an important role in the susceptibility to T1DM