Background: Type 1 diabetes mellitus (T1D) is a T cell-mediated autoimmune disease characterized by the destruction of pancreatic β cells. PTPN22 and IL2RA polymorphisms have been found to be associated with several autoimmune diseases including T1D.
Aims: We aimed to elucidate the role of PTPN22 and IL2RA polymorphisms in predisposition of T1D in Egyptian children.
Methods: We studied 150 children and adolescents with T1D and 165 healthy controls. The PTPN22 (rs2476601) and IL2RA (rs11594656) polymorphisms were genotyped using polymerase chain reaction.
Results: We found that carriers of the T allele of PTPN22 were significantly more likely to develop T1D (OR=2.2, 95% CI=1.2-4, P=0.01). Also, the carrier of TT genotype and T allele of IL2RA more likely to develop T1D (OR=2.8, 1.4, respectively, P=0.03). There was a statistically significant association between T allele of PTPN22 gene and females ⩽10years old at the onset of diabetes (OR=4, 95% CI=1.2-13.4, P=0.019).
Conclusion: This study suggests a possible association between the T allele of PTPN22 gene and TT genotype of IL2RA with T1D in studied Egyptian children, especially, females with early onset diabetes who carried the 1858T allele.
Keywords: IL2RA; PTPN22; Polymorphism; T1D.
Copyright © 2016. Published by Elsevier Inc.