Genetic Variants of BMI1 (rs1042059 and rs11591377) and Their Potential Role in Leukemia Susceptibility: A Narrative Review
Mojtaba Aghaei, Niloufar Afrough, Mohammad Ali Jalali FarABSTRACT
Background and Aims
Leukemia is a heterogeneous group of hematologic malignancies influenced by both genetic and environmental factors. The B‐cell‐specific Moloney murine leukemia virus integration site 1 (BMI1) gene, a key regulator of hematopoietic stem cell self‐renewal and oncogenesis, has been implicated in leukemia pathogenesis. Among its polymorphisms, rs1042059 and rs11591377 have attracted attention due to their potential association with leukemia susceptibility. This Narrative review aims to explore the roles of these specific single nucleotide polymorphisms (SNPs) in leukemia development.
Methods
We conducted a comprehensive literature review of case‐control studies, genome‐wide association studies (GWAS), and functional analyses evaluating the relationship between BMI1 SNPs (rs1042059 and rs11591377) and leukemia susceptibility.
Results
Some studies have reported significant associations between these polymorphisms and increased leukemia risk, suggesting potential effects on gene expression and leukemogenic signaling pathways. However, results are not consistent across all populations and study designs, indicating the need for further validation.
Conclusion
BMI1 polymorphisms rs1042059 and rs11591377 may contribute to leukemia susceptibility, but current findings remain inconclusive. Future research should focus on clarifying the molecular mechanisms involved and conducting large‐scale, population‐based studies to validate these associations. Understanding these genetic variants may improve leukemia risk assessment and inform personalized therapeutic strategies.