Assessment of IL-17F rs763780 gene polymorphism in immune thrombocytopenia.

Interleukin-17F rs763780 (7488A/G) gene polymorphism obviously affecting the expression and activity of IL17F and may affect primary immune thrombocytopenia (PIT) susceptibility and its clinical features in Egyptian children and adults. 105 ITP patients divided into (63 pediatric and 42 adult patient) and 112 age and sex matched healthy controls were enrolled in this case control study. All patients were subjected to history taking; clinical examination, CBC, bone marrow aspiration and genotyping of IL17F rs763780 polymorphism by (PCR-RFLP) technique. Our results revealed significant decrease in the mutant heterozygous genotype AG and also in IL-17F mutant allele G frequency in ITP patient group and associated with increased risk for ITP compared with the control group (P = 0.04 and P = 0.005 respectively). Furthermore, the mutant allele G frequency was significantly decreased in childhood onset than adult onset ITP (OR = 0.31, P = 0.02) and also was significantly lower in chronic ITP when compared with newly diagnosed and persistent ITP (P = 0.005). Patients with the AA genotype showed severe thrombocytopenic state at diagnosis than those with the AG genotype (P = 0.04). We concluded from our results that interleukin-17F rs763780 (7488A/G) polymorphism is strongly correlated with susceptibility and severity of ITP.

Autophagy-related 5 gene mRNA expression and ATG5 rs510432 polymorphism in children with bronchial asthma.

PURPOSE: Bronchial asthma is a common chronic respiratory disease in children with complex pathogenesis, characterized by airway hyper-responsiveness, obstruction, mucus hyperproduction, and airway remodeling. Autophagy is important for cellular physiology, and the ATG5 rs510432 has recently been implicated in several fundamental characteristics of childhood asthma pathogenesis and may play a role in the disease progression. This study aims to assess the expression of ATG5 messenger RNA (mRNA) according to rs510432 polymorphism in asthmatic children and to evaluate their possible relation with the development of the disease. METHODS: ATG5 mRNA expression and rs510432 polymorphism were measured using real-time polymerase chain reaction in 57 asthmatic children patients and 46 healthy controls. RESULTS: ATG5 level was significantly higher in asthmatic children than in controls and a significant increase in the frequency of TT and CC genotype of ATG5 rs510432 gene polymorphism was found in asthmatic patients when compared to control subjects (p < 0.001; and p = 0.01, respectively), and there was a statistically significant decrease in the frequency of CT genotype of ATG5 rs510432 gene polymorphism in asthmatic patients when compared to control subjects (p < 0.001). CONCLUSION: ATG5 rs510432 gene polymorphism plays an important role in childhood asthma pathogenesis.