Research Papers:

Involvement of SNPs in miR-3117 and miR-3689d2 in childhood acute lymphoblastic leukemia risk

Angela Gutierrez-Camino _, Idoia Martin-Guerrero, Vita Dolza, Janez Jazbec, Ana Carbone-Bañeres, Nagore Garcia de Andoin, Ana Sastre, Itziar Astigarraga, Aurora Navajas and Africa Garcia-Orad

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Oncotarget. 2018; 9:22907-22914. https://doi.org/10.18632/oncotarget.25144

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Angela Gutierrez-Camino1, Idoia Martin-Guerrero1, Vita Dolzan2, Janez Jazbec3, Ana Carbone-Bañeres4, Nagore Garcia de Andoin5,6, Ana Sastre7, Itziar Astigarraga8,9, Aurora Navajas9 and Africa Garcia-Orad1,9

1Department of Genetics, Physical Anthropology and Animal Physiology, University of the Basque Country, UPV/EHU, Leioa, Spain

2Institute of Biochemistry, Faculty of Medicine, Ljubljana, Slovenia

3Department of Oncology and Haematology, University Children’s Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia

4Department of Paediatrics, University Hospital Miguel Servet, Zaragoza, Spain

5Department of Paediatrics, University Hospital Donostia, San Sebastian, Spain

6BioDonostia Health Research Institute, San Sebastian, Spain

7Department of Oncohematology, University Hospital La Paz, Madrid, Spain

8Department of Paediatrics, University Hospital Cruces, Barakaldo, Spain

9BioCruces Health Research Institute, Barakaldo, Spain

Correspondence to:

Africa Garcia-Orad, email: [email protected]

Keywords: SNP; miRNAs; acute lymphoblastic leukemia; susceptibility; MAPK signalling pathway

Received: August 23, 2017     Accepted: April 02, 2018     Published: May 01, 2018


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 in silico 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.

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