Role of CTLA4-49A polymorphism in the pathogenesis of acute leukemia

Abstract

Background Acute leukemia is a clonal disorder of both myeloid and lymphoid progenitors with distinctive morphologic, immunophenotypic, and genotypic features and represents the most frequent malignancy of childhood. Acute leukemia is associated with several humoral and cellular immune abnormalities that could lead to an inadequate antitumor response. One of the co-stimulators that regulates immune response is CTLA-4 which has been well established as a negative regulator of T-cell function. Objective The aim of this study was to investigate the association of an Single-Nucleotide Polymorphism (SNP) in CTLA4 49-A with genetic susceptibility to acute leukemia. Participants and methods This is a case–control study that included 65 Egyptian patients with acute lymphoblastic leukemia (ALL) and 25 patients with acute myeloid leukemia (AML). The control group comprised 60 healthy unrelated participants with no family history of leukemia or autoimmune disease. Using the PCR-restriction fragment length polymorphism methodology, CTLA4 49 A/G was analyzed in 150 samples representing 90 patients (65 patients with ALL, and 25 patients with AML) and 60 controls. Results There was no significant differences that were encountered between the different groups with regard to CTLA4 +49 A/G genotype or allele frequencies in ALL and AML cases. Neither was there a relation between the various genotypes and age of onset or the mode of presentation. Conclusions CTLA4 49 A/G polymorphism was not recognized as a risk susceptibility factor in our case–control study. To our knowledge, this is the first study involving acute leukemia. The authors recommend that additional studies with larger sample sizes and different populations are required to confirm the findings of the present study