Abstract
INTRODUCTION: The ATP Binding Cassette Subfamily B1 (ABCB1) gene is responsible for encoding the permeability glycoprotein (P-gp), a crucial protein involved in multidrug resistance. P-gp functions as an ATP-dependent efflux pump, actively removing diverse substances, including carcinogens, from cells. However, a specific genetic variation called the C3435T polymorphism of the ABCB1 gene has been linked to reduced plasma levels of P-gp substrates. This genetic variation leads to the accumulation of harmful compounds within cells, which may increase susceptibility to hematological malignancies. This study aims to determine the frequency of ABCB1 gene polymorphism C3435T (rs1045642) in acute myeloid leukemia patients at tertiary care hospitals in Lahore, Pakistan. METHODS: A cross-sectional comparative study was conducted to investigate the association between ABCB1 gene polymorphism (C3435T) and acute myeloid leukemia. A total of 100 samples (50 cases and 50 healthy controls) were genotyped using restriction fragment length polymorphism assay. RESULTS: The TT genotype of ABCB1 C3435T was more prevalent in cases (62%) compared to the control group (20%). In different genetic models, the TT genotype was significantly associated with acute myeloid leukemia when compared to the CC and CT genotypes. CONCLUSION: This study suggests that the TT genotype of the ABCB1 C3435T gene polymorphism is more strongly associated with acute myeloid leukemia compared to controls. This specific genotype may contribute to the development or progression of this malignancy. Further research is needed to explore the functional implications of this genetic variation in the pathogenesis.