Theassocation of CD247 Gene rs858554 and rs704848 Polymorphisms with Immune Trombocytopenia Disease

Abstract

<strong>Objective</strong>: Immune Thrombocytopenia (ITP) is a disease characterized by the development of thrombocytopenia as a result of platelet destruction due to autoantibodies which is against to platelets. There is the abnormal T cell response that stimulates the proliferation and differentiation of autoreactive B cells. The first signal is transmitted with the CD3 zeta chain (CD247) molecule to the T cell for activation. In this study, the association of immune thrombocytopenia (ITP) disease with rs858554 and rs704848 polymorphisms of CD3 zeta chain (CD247) gene, have been investigated. <br> <strong>Materials and Methods</strong>: The study was performed with the blood samples taken from 108 donors in the ITP and healthy control group. The patients with ITP who were followed in Trakya University Medical Faculty Hematology Clinic were included to the study. The patients and healthy controls were informed about the study and signed informed consent form approved by the local ethics committee. The ITP group were including 35 females, 20 males (55 in total) and in the healthy control group there were 31 females, 22 males (53 in total). The allelic variants of rs858554 and rs704848 were determined with “TaqMan Probe Real-Time PCR”, the analyses were performed with using “AB Applied Biosystems (SerialNumber: 2720010807)” via VIC/ FAM dyes. The results were statistically evaluated with chi square test. <br> <strong>Results</strong>: According to the results of the study, no significant difference was found in the rs858554 and rs704848 polymorphisms between the ITP group and the healthy control group. Gender distribution and haplotypic situational analysis, and the clinical finding for the ITP patients there were no association with allelic and genotypic variants of polymorphisms. <br> <strong>Conclusion</strong>: According to the findings that the rs858554 and rs704848 polymorphisms did not directly contribute to the clinical course of ITP disease for the investigated population in this study.