title: Evaluation of rs62527607 [GT] single nucleotide polymorphism located in BAALC gene in children with acute leukemia using mismatch PCR-RFLP.
abstract: Acute leukemia is the most common cancer in children and involves several factors that contribute to the development of multidrug resistance and treatment failure. According to our recent studies, the BAALC gene is identified to have high mRNA expression levels in childhood acute lymphoblastic leukemia (ALL) and those with multidrug resistance. Several polymorphisms are associated with the expression of this gene. To date, there has been no study on the rs62527607 [GT] single nucleotide polymorphism (SNP) of BAALC gene and its link with childhood acute lymphoblastic and myeloid leukemia (AML). The purpose of this study is to evaluate the prevalence of this polymorphism in pediatric acute leukemia, as well as its relationship with prognosis. DNA samples were extracted from bone marrow slides of 129 children with ALL and 16 children with AML. The rs62527607 [GT] SNP was evaluated using mismatch polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP)-based analysis. The association between the SNP alleles and patient disease-free survival was then assessed. The prevalence of the T-allele of rs62527607 [GT] SNP in childhood T-ALL and pre-B-ALL was 28.3% and 11.2%, respectively. In the pre-B-ALL patients, 3 year disease free survival was associated with the GG genotype. Results showed a robust association between the rs62527607 SNP and the risk of relapse in ALL, but not AML, patients. T-ALL patients with the GT genotype had an 8.75 fold higher risk of relapse. The current study demonstrates a significant association between the genotype GT and the polymorphic allele G424T, and introduces this SNP as a negative prognostic factor in children with ALL.
authors.affiliation: Division of Cell and Molecular Biology, Department of Biology, Faculty of Science, University of Isfahan, Isfahan, Iran.
authors.forename: Motahareh
authors.initials: M
authors.lastname: Nadimi
authors.affiliation: Division of Cell and Molecular Biology, Department of Biology, Faculty of Science, University of Isfahan, Isfahan, Iran. Electronic address: rahgozar@sci.ui.ac.ir.
authors.forename: Soheila
authors.initials: S
authors.lastname: Rahgozar
authors.affiliation: Department of Pediatric Hematology-Oncology, Sayed Al-Shohada Hospital, Isfahan University of Medical Sciences, Isfahan, Iran.
authors.forename: Alireza
authors.initials: A
authors.lastname: Moafi
authors.affiliation: Division of Genetics, Department of Biology, Faculty of Science, University of Isfahan, Isfahan, Iran.
authors.forename: Manoochehr
authors.initials: M
authors.lastname: Tavassoli
authors.affiliation: Division of Cell and Molecular Biology, Department of Biology, Faculty of Science, University of Isfahan, Isfahan, Iran.
authors.forename: Hamzeh
authors.initials: H
authors.lastname: Mesrian Tanha
mesh_terms: D054458:Amplified Fragment Length Polymorphism Analysis / Q000379:methods*; D002648:Child; D002675:Child, Preschool; D018572:Disease-Free Survival; D018432:Drug Resistance, Multiple; D019008:Drug Resistance, Neoplasm; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008297:Male; D009363:Neoplasm Proteins / Q000235:genetics*; D009364:Neoplasm Recurrence, Local / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics*; D011379:Prognosis; D016019:Survival Analysis
chemical_list: C442828:BAALC protein, human; D009363:Neoplasm Proteins
keywords: BAALC; childhood acute leukemia; multidrug resistance; single nucleotide polymorphism