eNOS intron 4 and eNOS T>C gene polymorphisms may be used as a genetic marker of prognostic value in SCD, as they are associated with unfavorable clinical outcomes.

Some GST gene polymorphisms were significantly associated with the worsening of the clinical manifestations of SCD.

IFN-γ +874 A/T gene polymorphism is associated with the etiology of AA in Egyptian patients.

Background In chronic immune thrombocytopenic purpura (ITP), rituximab removes the harmful autoantibodies through antibody-dependent cellular cytotoxicity. The response to rituximab in ITP is variable; the effectiveness of rituximab is influenced by the process of activation of effector fragment C gamma receptors (FcγRs). Genetic factors may affect the response to rituximab. Objectives The influence of FcγRIIa (H131R) and FcγRIIIa (V158F) gene polymorphisms on the response to rituximab in ITP. Methods One hundred ITP patients were genotyped for FcγRIIa (H131R) and FcγRIIIa (V158F) gene polymorphisms using the polymerase chain reaction-restriction fragment length polymorphism assay. The response at the end of the third month was assessed by direct platelets count. Polymorphisms were analyzed in relation to the response. Results The mean platelets count at end of weeks 1-4 of rituximab was statistically significantly higher in patients who achieved complete response (CR) than partial response or no response (P-value = .001). Although RR (44.4%) and HR (38.9%) genotypes were observed to be higher in patients who achieved CR compared with the wild (HH) genotype (16.7%), it was not statistically significantly different (P-value = .648). Conclusion The higher platelet count achieved early is predictive for a better response to rituximab later. FCγRIIA polymorphisms did not significantly influence response to rituximab in ITP.

Background:The pathophysiology underlying primary adult immune thrombocytopenic purpura (ITP) has not yet been identified. However, many mechanisms affect the immune system, causing defective tolerance to self-platelets and megakaryocytes. Cluster of differentiation 40 (CD40) contributes to both humoral and cell-mediated immune responses. Methods:This case-control study was conducted to detect rs4810485G>T and rs1883832C>T polymorphisms of CD40 in Egyptian patients with persistent/chronic ITP to clarify their possible association with chronic disease evolution. This study included 50 patients with persistent/chronic ITP and 50 healthy controls. Genotyping was performed using the polymerase chain reaction-restriction fragment length polymorphism technique.Results: Genotyping of rs1883832 and rs4810485 revealed no statistically significant differences between the two groups. However, combined gene polymorphism genotyping showed a statistically significant difference between the two groups (P<0.01). Conclusion:Our results indicate a strong association between the combined polymorphism of both genes and susceptibility to developing ITP among adult Egyptian patients. Targeting this pathway using novel therapeutic approaches is promising.