The association between rs636832 & rs2740348 single nucleotide polymorphisms and the primary immune thrombocytopenic purpura in the Egyptian population

Abstract

Primary ITP is an autoimmune disorder characterized by isolated thrombocytopenia with a platelet count <100 × 109/L, in the absence of other causes or disorders that may be associated with thrombocytopenia. The pathogenesis of primary ITP remains incompletely understood, yet it appears to be highly multifactorial. The primary role of miRNAs is being to regulate the translation of many genes, that are involved in a variety of cellular processes, including cell proliferation, differentiation, apoptosis, and immune processes. The miRISC contains proteins including AGO1- 4, GEMIN3, and GEMIN4 participates in mRNA inhibition or shearing of target mRNA. The aim of our study to demonstrate the relation between rs636832 & rs2740348 SNPs of AGO1 gene and Gemin4 gene respectively and the risk to primary ITP as well as response to therapy in a cohort of Egyptian Population. The present study was conducted on a total 100 patient with ITP Patients were diagnosed by presence of isolated thrombocytopenia (< 100 x 109/L) with absence of other causes of thrombocytopenia. They were selected among cases referred to the Hematology Outpatient Clinic of El-Demerdach Hospital, Faculty of Medicine, Ain Shams University during the period from September 2018 to December 2019. One hundred age and sex matched unrelated Egyptian healthy volunteers were also included as a control group.