Expression of IL4 (VNTR intron 3) and IL10 (-627) genes polymorphisms in childhood immune thrombocytopenic purpura.

Immune thrombocytopenic purpura (ITP) is an acquired autoimmune disorder caused by the production of antiplatelet antibodies. These autoantibodies opsonize platelets for splenic clearance, resulting in low levels of circulating platelets. Interleukin 4 (IL4) and interleukin 10 (IL10) are important immunoregulatory cytokines mainly produced by macrophages, monocytes, T cells, B cells, and mast cells. Our study was aimed at detecting the frequency of IL4 (VNTR intron 3) and IL 10 (-627) gene polymorphisms in Egyptian ITP children as genetic markers for ITP risk and clarifying their possible role in the pathogenesis of ITP as well as their correlation with the clinical presentation and laboratory data. IL4 (VNTR intron 3) and IL10 (-627) gene polymorphisms were studied in 70 ITP patients and 50 age- and sex-matched healthy controls using polymerase chain reaction-restriction fragment length polymorphism assay (PCR-RFLP). IL4 RP2 and IL10 A alleles were detected more frequently among ITP patients compared to controls. A statistically significant difference was observed in IL10 and IL4 gene polymorphism distribution between acute and chronic ITP patients, with higher A allele and RP2 allele among chronic ITP patients versus acute ITP patients. Combined polymorphisms of IL4 and IL10 genes were associated with greater risk of ITP. IL4 and IL10 gene polymorphisms may contribute to susceptibility for ITP in children.