Bioinformatics study of single nucleotide polymorphism rs2070672 and its association hsa-mir-199a-5p in patients with acute lymphoblastic leukemia

Introduction & Objectives: Acute lymphoblastic leukemia accounts for 80% of childhood leukemia. CYP2E1 is one of the important genes involved in this cancer. Rs2070672 is located on the CYP2E1 gene and contains the A allele (dominant allele) and the G allele (SNP allele). The aim of this study was to evaluate the role of CYP2E1 and its association with hsa-mir-199a-5p in the pathway of acute lymphoblastic leukemia.Materials & Methods: At first, a microPIR database was used to identify microRNAs associated with CYP2E1. After investigating the role of microRNAs in leukemia cancer through the phenomiR database and articles, finally, hsa-mir-199a-5p was selected as the microRNA associated with this gene and acute lymphoblastic leukemia. This microRNA binds to the CYP2E1 transcript and the region that contains the rs2070672 mononucleotide polymorphism. The target genes hsa-mir-199a-5p were obtained from the miRWALK2.0 database. The associated signal pathways were identified using the DAVID and KEGG databases.Results: According to information obtained from the microPIR database, while the rs2070672 allele is SNP, the hsa-mir-199a-5p is more possibility bind to the gene. According to phenomiR data, hsa-mir-199a-5p is overexpressed in acute lymphoblastic leukemia cancer. Due to the increased expression of the microRNA inhibitory role, gene expression is reduced in this state.Conclusion: In the case of the SNP allele, expression of CYP2E1 decreased due to being further inhibited by hsa-mir-199a-5p and leads to cancer progression. As a result, this gene is a tumor suppressor. It is expected that by designing primer at rs2279744, the SNP allele will be in leukemia patients with practical design. It is predicted that the presence of the SNP allele in the CYP2E1 gene may increase the risk of cancer and can be used as a prognostic factor for acute lymphoblastic leukemia.

کلیدواژه ها:

leukemia ، CYP2E1 ، hsa-mir-199a-5p ، rs2070672