Gutierrez-Camino Angela, Martin-Guerrero Idoia, Dolzan Vita, Jazbec Janez, Carbone-Bañeres Ana, Garcia de Andoin Nagore, Sastre Ana, Astigarraga Itziar, Navajas Aurora, Garcia-Orad Africa
Department of Genetics, Physical Anthropology and Animal Physiology, University of the Basque Country, UPV/EHU, Leioa, Spain.
Institute of Biochemistry, Faculty of Medicine, Ljubljana, Slovenia.
Oncotarget. 2018 May 1;9(33):22907-22914. doi: 10.18632/oncotarget.25144.
Acute lymphoblastic leukemia (ALL) is the most common cancer in children. Numerous studies have shown that microRNAs (miRNAs) could play a role in this disease. Nowadays, more than 2500 miRNAs have been described, that regulate more than 50% of genes, including those involved in B-cell maturation, differentiation and proliferation. Genetic variants in miRNAs can alter their own levels or function, affecting their target gene expression, and then, may affect ALL risk. Therefore, the aim of this study was to determine the role of miRNA genetic variants in B-ALL susceptibility. We analyzed all variants in pre-miRNAs (MAF > 1%) in two independent cohorts from Spain and Slovenia and inferred their functional effect by analysis. SNPs rs12402181 in miR-3117 and rs62571442 in miR-3689d2 were associated with ALL risk in both cohorts, possibly through their effect on MAPK signalling pathway. These SNPs could be novel markers for ALL susceptibility.
急性淋巴细胞白血病（ALL）是儿童中最常见的癌症。大量研究表明，微小RNA（miRNA）可能在这种疾病中发挥作用。如今，已描述了超过2500种miRNA，它们调控超过50%的基因，包括参与B细胞成熟、分化和增殖的基因。miRNA中的基因变异可改变其自身水平或功能，影响其靶基因表达，进而可能影响ALL风险。因此，本研究的目的是确定miRNA基因变异在B-ALL易感性中的作用。我们分析了来自西班牙和斯洛文尼亚的两个独立队列中前体miRNA的所有变异（MAF>1%），并通过分析推断其功能效应。miR-3117中的SNP rs12402181和miR-3689d2中的rs62571442在两个队列中均与ALL风险相关，可能是通过它们对MAPK信号通路的影响。这些SNP可能是ALL易感性的新标志物。
