الفهرس | Only 14 pages are availabe for public view |
Abstract ITP is a common haematological disorder that is acquired and results from increase immune platelet destruction and/or reduces its production. ITP may be primary with unknown underlying cause or secondary due to autoimmune or infectious disease Genetic polymorphisms are involved in the aetiology and prognosis of ITP. TNFAIP3 acts as a negative regulator of NF-kB in a variety of signalling pathways. A20 polymorphisms have been linked to autoimmune disorders including MS, SLE, RA, psoriasis, and type 1 diabetes. This suggests that TNFAIP3 may have a role in ITP. The purpose of this study was to determine the impact of TNFAIP3 SNPs in ITP risk, clinical characteristics, and prognosis. This can identify if rs2230926 & rs5029939 can be used as biomarkers for ITP risk and targets for therapy. The study included 110 adult Egyptian primary ITP patients and 110 age, gender, and racial matched healthy controls. Performance of Real Time PCR analysis of TNFAIP3: (rs2230926 and rs5029939) gene polymorphisms was done. The study found a significant difference between patients and controls for rs2230926 and rs5029939 frequencies. The two variants shared a substantial LD. Non-cutaneous bleeding was seen mostly in the mutant genotype of rs2230926 & rs5029939. There was no significant different between the male and female groups in terms of rs2230926 G or rs5029939 G when using sex-matched analysis. |