Wafaa Moustafa M. Abo El Fotoh*, Dina Abd El Razek Midan and Abeer Hamdy El Shalakany Pages 73 - 79 ( 7 )
Background: Type 1 Diabetes Mellitus (T1DM) is a multifactorial autoimmune disease. The Protein Tyrosine Phosphatase Non-receptor 22 (PTPN22) gene is an important negative regulator of signal transduction through the T-cell Receptors (TCR). A PTPN22 polymorphism, C1858T, has been found to be a risk determinant for several autoimmune diseases, including T1DM, in different populations.
Objective: The present study was aimed to analyze a possible association between the C1858T polymorphism in Egyptian children with T1DM.
Methods: This case-control study included 240 children divided evenly between T1DM patients and controls. The PTPN22 C1858T polymorphism was genotyped using polymerase chain reaction with Restriction Fragment Length Polymorphism (RFLP).
Results: Both the 1858CΤ and 1858ΤΤ genotypes and the 1858T allele were found more frequently in patients (32.5% and 18.7%, respectively) than in controls (10% and 5.0%, respectively), P=0.013 and P=0.007, respectively. Among females, the 1858T allele was more common in patients (18%) than in controls (2.6%), P=0.014.
Conclusion: These findings suggest that the PTPN22 1858T allele could be a T1DM susceptibility factor in the Egyptian population and that it might play a different role in susceptibility to T1DM according to gender in T1DM patients.
C1858T, Egyptian, Polymorphism, PTPN22, RFLP, T1DM.
Department of Pediatrics, Faculty of Medicine, Menoufia University, Al Minufiyah, Department of Pediatrics, Faculty of Medicine, Menoufia University, Al Minufiyah, Department of Clinical Pathology, Faculty of Medicine, Menoufia University, Al Minufiyah