FOXP3 Polymorphism and Susceptibility to Pediatric Acute Lymphocytic Leukemia (ALL): A Preliminary Data

FOXP3 (forkhead box P3) polymorphism is associated with many inflammatory diseases and cancers. Acute lymphoblastic leukemia (ALL) is the most common type of pediatric malignancies.This study was designed to investigate the impact of FOXP3 (-3279C/A and -2383C/T) gene polymorphism on the susceptibility of Egyptian children to ALL. A total of 128 subjects with ALL and 124 healthy controls were enrolled in this study. Genotyping of FOXP3 (-3279C/A and -2383C/T) were performed by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP). There was a significant increase (P<0.01) in FOXP3 (-3279CC) genotype, while FOXP3 -3279CA genotype was significantly decreased in ALL patients compared to controls. Insignificant change in FOXP3 (-2383C/T) genotypes was demonstrated between both groups. FOXP3 (-2383CC) genotype was significantly decreased (p<0.05) in treatment responders compared to non-responders and a significant increased (p<0.05) in relapsed patients comparing to the non-relapsed group. Taken together, our pilot study pointed to the potential role of FOXP3 (-3279C/A) gene polymorphisms in Egyptian children ALL susceptibility. An additional prospective large scale study should be carried out to support our findings

Interleukin 10 gene promoter polymorphism and risk of diffuse large B cell lymphoma (DLBCL)

Purpose: Given the importance of understanding the genetic variations involved in the pathogenesis of non-Hodgkin’s lymphoma (NHL), this work was designed to study the impact of IL-10 (−1082 G/A; rs1800896 and −819 C/T; rs1800871) gene promoter polymorphism on susceptibility of Egyptians to diffuse large B cell lymphoma (DLBCL); the major type of NHL. To the best of our knowledge, this study is the first one that examines IL-10 promoter polymorphism in DLBCL in Egyptians. Methods: Genotyping polymorphism is performed using sequence-specific primers polymerase chain reaction (SSP-PCR) in 100 Egyptian DLBCL patients and 119 normal controls. Circulating plasma levels of IL-10 were measured using Enzyme-linked immunosorbent assay (ELISA). Results: Insignificant change in IL-10 (−1082 and −819) genotypes was recorded. Although A allele is slightly decreased in DLBCL patients, it did not reach statistical significance. GT haplotype was significantly elevated (P < 0.05) in NHL patients. A significant linkage disequilibrium between the −1082 and −819 SNPs with D′ = 0.596 and r2 = 0.1032 (P < 0.001) was demonstrated. Significantly increased plasma IL-10 (P < 0.01) was found which is positively correlated (r = 0.307; P < 0.01) with the disease. Conclusions: Taken together, our findings demonstrated that IL-10 promoter gene polymorphism (−1082 and −819) may not have an influence on the clinical outcome of DLBCL, especially in terms of overall secretion level. Further investigations of other cytokine gene polymorphisms will lead to a better understanding of the disease’s biological background