Research Papers:
Involvement of SNPs in miR-3117 and miR-3689d2 in childhood acute lymphoblastic leukemia risk
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Abstract
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
ABSTRACT
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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PII: 25144