Tumor necrosis factor induced protein 3 gene polymorphism and the susceptibility to chronic primary immune thrombocytopenia in Egyptian children / Basma Sayed Atwa Mohamed Mansour ; Supervised Dalia Sayed Mosallam , Shahira Kamal Anis , Marwa Abdelhady Abdelsamad

Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Pediatrics

Introduction: Immune thrombocytopenia (ITP) is an autoimmune mediated heterogenous disease where both genetic and environmental factors share in its development. Tumor necrosis factor induced protein 3 gene (TNFAIP3) is a common susceptibility gene to multiple autoimmune diseases including ITP. Aim of work: To investigate the relationship between the distribution of TNFAIP3 (rs5029939: C>G) polymorphism and the susceptibility to chronic primary ITP in Egyptian children. Subjects and methods: This was a case-control study on 40 chronic ITP patient and 50 age and gender matched healthy controls. DNA samples from patients and controls were tested for TNFAIP3 rs5029939 C/G single nucleotide polymorphism (SNP) using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. Results: TNFAIP3 rs 5029939 C/G mutant heterozygous genotype was found in 22.5% and 18.5% of cases and controls respectively, while the C/C wild genotype was found in 77.5% and 82.5% of cases and controls respectively. The mutant allele G was encountered in 11.2% of chronic ITP cases group and 9% of control group. We found no statistically significant difference between the two groups as regards susceptibility to chronic ITP with p - value = 0.596, OR = 1.323, 95% CI = 0.470 {u2013} 3.723. We also found no statistically significant difference between chronic ITP patients carrying wild C/C genotype and those carrying mutant C/G genotype regarding response to treatment with p - value = 1, OR = 1.667, 95% CI = 0.165-16.810

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