Investigation of the relationship between IL-10 and TNF-α gene polymorphism and therapy resistance to platelet transfusion and recombinant factor VII injection in Glanzmann Thrombasthenia

Background: Resistance to platelet and recombinant factor VII injection in patients with Glanzmann Thrombasthenia is a major problem that increases bleeding, morbidity and mortality. There is no data on the risk factors for resistance in patients with Glanzmann Thrombasthenia. In this study, for the first time, the relationship between immune regulator genes in the development of resistance to treatment in Glanzmann Thrombasthenia patients was investigated. IL-10 and TNF-α play important roles in immune responses. recent studies have shown that some of the genes of the cytokines have multiple polymorphism points that produce a different level of cytokines, which results in differences in individual immune responses. Regarding the role of cytokines in immune responses and different expressions of these molecules, the polymorphisms of the genes of cytokines are candidates for the cause of therapy resistance.Method: Blood samples were collected from 15 Glanzmann Thrombasthenia patients with therapy resistance and 15 patients without therapy resistance as controls from south-east of Iran hospitals. DNA was extracted and analyzed by Taqman Realtime PCR Based Method. Demographic and molecular information were collected and evaluated.Results: for rs1800896 polymorphism our data showed that all patients with resistance to therapy had G/G genotype and There was no A allele in this group and difference was significant between groups(P-value < 0.05). Our data demonstrated that there was no significant difference between rs1800629 polymorphism and resistance to therapy in Glanzmann Thrombasthenia patients (P-value > 0.05).Conclusion: we showed IL-10 polymorphism might be associted with resistance to platelet transfusion and recombinant factor VII injection. TNF- polymorphism was not associated with the development of resistance in Glanzmann Thrombasthenia patients.

Keywords:

Glanzmann Thrombasthenia , resistance to platelet and recombinant factor VII injection , IL-10 , TNF-