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Updated: Jun 1, 2025
Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Are rs1042059 and rs11591377 polymorphisms of BMI1 gene related to leukemia?
Amir Bahador Abbasi Farid1, Zeinab Eftekhar1, Zari Tahannejad Asadi1
1Thalassemia & Hemoglobinopathy Research Center, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
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.
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