Immune gene polymorphisms associated with poor response to platelet transfusion and recombinant factor VII administration in Glanzmann thrombasthenia.

INTRODUCTION: Poor response to platelet and recombinant factor VII administration is a major problem in patients with Glanzmann Thrombasthenia (GT). The risk factors associated with poor response to treatment in these patients are unknown. Some genetic variations of cytokines may contribute to therapy resistance. AIMS: We evaluated, for the first time, whether genetic polymorphisms on cytokine genes are related to poor treatment response in GT patients. METHODS: We enrolled 30 patients with GT (15 resistant and 15 non-resistant) and 100 healthy controls. Gene polymorphisms of IL-10 and TNF-α were analysed using TaqMan Realtime PCR, and IL-1, IL-1R1 and IL-1RN were investigated with the RFLP method. In-silico analyses were performed to predict the potential impact of these polymorphisms. RESULTS: In the resistant group, all patients had a variant of the IL-10 gene at the -1082 position (rs1800896), with a GG genotype that was significantly more frequent than the non-resistant group. Analysis between healthy controls and GT patients revealed a probable correlation between rs3783550, rs3783553, rs3917356 and rs2234463 and GT. The In-silico study indicated that TNF-α rs1800629 and IL-10 rs1800896 polymorphisms result in different allelic expressions which may contribute to poor response to therapy. CONCLUSIONS: These findings suggest that polymorphisms in the IL-10 and IL-1 receptor antagonist genes may play a role in poor therapy response in GT patients. In addition, some polymorphisms in IL-1α, IL1-ß, IL-1R1 and IL-R antagonists might be involved in the GT progression.

Association between miRNA-152 polymorphism and risk of preeclampsia susceptibility.

BACKGROUND: Preeclampsia (PE) is one of the main causes of death among the pregnant women as well as newborns. Although the etiological cause of preeclampsia is not yet clear, a range of risk factors has been suggested. MicroRNAs (like miRNA-152) are small non-coding molecules that play a role in a wide spectrum of biological processes, such as cell proliferation and angiogenesis. This study aimed to investigate the possible relationship of miRNA-152 rs12940701 polymorphism and the risk of preeclampsia among the pregnant women as compared with the control group. METHODS: Genotyping of miRNA-152 rs12940701 polymorphism was performed using blood and placenta samples of 223 preeclampsia women and 229 normotensive pregnant women by a polymerase chain reaction-restriction fragment length polymorphism method. RESULTS: The results obtained from maternal blood showed an increase in T alleles for PE women, that there was no significant difference between the PE and control group (OR = 1.7, P = 0.19). In addition, no significant difference was found in the TT genotype between the two groups (11.6% vs. 7%, OR = 1.4, P = 0.3). Similarly, the results obtained from placental samples were identical. CONCLUSIONS: A lack of relationship between the polymorphism of miRNA-152 rs12940701 gene and preeclampsia development has been shown.