Polymorphisms in the CYP2A6 and ABCC4 genes are associated with a protective effect on chronic myeloid leukemia in the Brazilian Amazon population

Background Susceptibility to Chronic Myeloid Leukemia (CML) may be modulated by genetic variables. However, the majority of previous investigations have focused on genetically homogeneous populations, resulting in a lack of evidence on how genetic factors may influence the development of CML in miscegenated populations. We analyzed 30 polymorphisms in genes related to DNA repair, folate metabolism, transmembrane transport, xenobiotic metabolism, and pyrimidine synthesis in relation to their potential role in the susceptibility of the individual to CML. Methods This case‐control study included 126 healthy individuals and 143 patients diagnosed with CML from the admixed population of the Brazilian Amazon. The samples were genotyped by real‐time PCR and the genetic ancestry analysis was based on a panel of 61 ancestry informative markers. Results The results indicated a protective effect against the development of CML in carriers of the C allele of the rs28399433 (CYP2A6) gene and the CC genotype of the rs3742106 (ABCC4) gene. Conclusion Our findings suggest that the rs3742106 (ABCC4) and rs28399433 (CYP2A6) polymorphisms may modulate susceptibility to CML in a population of the Brazilian Amazon region. Susceptibility to chronic myeloid leukemia may be modulated by genetic variables. The accumulated evidence of genetic players in CML development may not be applied to highly admixed populations since their allelic frequencies vary widely between groups with distinct ancestry backgrounds. Thus, we analyzed 30 polymorphisms in genes involved in transport and metabolism pathways in patients with CML from the Brazilian Amazon, one of the most genetically heterogeneous population worldwide.