Are rs1042059 and rs11591377 polymorphisms of BMI1 gene related to leukemia?

Introduction: Hematologic malignancies, originating from uncontrolled growth of hematopoietic and lymphoid tissues, constitute 6.5% of all cancers worldwide. Various risk factors including genetic disorders and single nucleotide polymorphisms play a role in the pathogenesis of hematologic malignancies. BMI1 is one of the genes involved in regulating the self-renewal and differentiation of hematopoietic stem cells.

Materials And Methods: 69 leukemia patients (45 AML, 18 ALL, and 6 CML) along with 80 control samples were selected. The frequency of rs1042059 and rs11591377 polymorphisms of BMI1 gene was evaluated using the Tetra-ARMS PCR technique.

Results: A significant difference in the prevalence of rs1042059 and rs11591377 polymorphisms was observed between the patient and control groups (P = < 0.001). The frequency of GA genotypes for both polymorphisms was higher in patients compared to the control group. Additionally, a significant difference was found in the prevalence of rs11591377 genotypes among the AML, ALL, and CML groups (P = 0.002) however, no significant difference was observed in the prevalence of rs1042059 genotypes among them (P = 0.578).

Conclusions: Considering the significant decrease in the prevalence of allelic variants in the control group compared to the leukemia group, the association of BMI1 with leukemias should be considered as a diagnostic and prognostic factor.