Abstract: Th17 cells (subset of CD4+ cells) are characterized by interleukin (IL)-17A and IL-17F production, which share strong homology, and surface expression of the IL-23 receptor (IL-23R). They have been implicated in the pathogenesis of inflammatory, autoimmune diseases and in many different types of human tumors, including lymphoma and myeloma.
Objectives: The aim of this study was to determine the association between the polymorphic features located within the IL-17A, IL-17F and IL-23R genes and susceptibility to or association with AML and the relationship between these polymorphic variants and the plasma IL-17 levels in all studied groups.
Subjects and Methods: 82 individual of Egyptian population including 27 AML patients, 40 individual who are relatives of those patients and 15 apparently healthy controls. All were subjected to detection of Interleukin 17F gene polymorphism by 2 steps: first Conventional Polymerase Chain Reaction then Restriction Fragment length Polymorphism by Restriction enzymeHIN1II (NLAIII) (PCR-RFLP) assay, Detection of Interleukin 17A and Interleukin23 receptor genetic polymorphisms by real time Polymerase Chain Reaction and Quantification of Interleukin 17 gene protein product by Enzyme Linked Immunosorbent Assay (ELISA).
Results: our results revealed that the (G) variant of IL17F and its homozygosity were significantly higher among patients compared to relatives and healthy individual. While IL17-A and IL23-R polymorphisms elicit non statistical significant difference among the three groups. Also a significant correlation was observed between IL17 protein plasma level and the three polymorphisms (IL17F, IL17A and IL23R genetic polymorphisms).
Conclusions: IL-17F gene G single mutant and GG homozygous mutant were associated with acute myeloid leukemia susceptibility in Egyptian population while IL17-A and IL23-R polymorphisms were not associated with susceptibility to the disease. Also there were statistical significant association (P˂0.05) and high statistical significant (P˂0.001) association between ELISA (IL17 plasma level) results and the three genetic polymorphisms in studied groups. There was high statistical significant difference (P˂0.001) between patients and other two groups in IL17 plasma level by ELISA.