Study the Incidence of TNF-α-induced Protein 3 Genetic Polymorphisms in Primary Immune Thrombocytopenia Patients

Abstract BackgroundImmune Thrombocytopenia (ITP) is a relatively common acquired hematological disorder, affecting 2 to 4/100000 adults. Understanding of the pathogenesis of ITP has been greatly improved with taking into consideration the important role of the genetic variants. This study aimed at investigating the incidence of TNFAIP3 SNPs (rs2230926 and rs5029939) in primary ITP Egyptian patients as well as their response to therapy in addition to the linkage between the two SNPs.Methods and Resultsthe study was conducted in 110 ITP patients diagnosed as primary ITP (PITP) selected among cases referred to the Hematology Outpatient Clinic of Kasr El Aini Hospital and 110 matched healthy controls. The polymorphisms were detected by real-time polymerase chain reaction (real-time PCR). Data indicated that there is a significant difference in the allelic distribution between PITP patients and the control group regarding rs2230926 and rs5029939 (p-value <0.05). Regarding LD analysis of the two SNPs, it has been revealed that there was a significant linkage disequilibrium between rs2230926 and rs5029939 among PITP group LD (D' = 0.966, r2 = 0.694, p-value < 0.001). On behalf of improvement by treatment, patients with rs2230926 wild genotype showed a more significant response to treatment than mutant type (p-value <0.05).ConclusionThere was a correlation between TNFAIP3 SNPs (rs2230926 and rs5029939) and the occurrence of primary ITP in the adult Egyptian populations and there was a linkage disequilibrium between them. Moreover, patients with rs2230926 wild genotype showed significant improvement than mutant type.