Department of Genetics, Physical Anthropology & Animal Physiology, Faculty of Medicine & Nursing, University of the Basque Country, UPV/EHU, Leioa, Spain.
Pediatric Oncology Group, BioCruces Bizkaia Health Research Institute, Barakaldo, Spain.
Epigenomics. 2020 Nov;12(22):1949-1955. doi: 10.2217/epi-2020-0152. Epub 2020 Nov 27.
To determine the role of single nucleotide polymorphisms (SNPs) in noncoding RNAs in childhood acute lymphoblastic leukemia (ALL) subtypes. We screened all SNPs in 130 pre-miRNA genes to assess their role in the susceptibility of the most common subtypes of ALL: hyperdiploid and . In two independent cohorts, we found a significant association between rs10406069 in miR-5196 and the risk of developing hyperdiploid ALL. This observation could be explained by the impact of the SNP on miR-5196 expression and in turn, in its target genes. Indeed, rs10406069 was associated with expression changes in , a gene involved in sister chromatin cohesion. rs10406069 in miR-5196 may have a relevant role in hyperdiploid ALL risk.
为了确定非编码 RNA 中单核苷酸多态性（SNP）在儿童急性淋巴细胞白血病（ALL）亚型中的作用。我们筛选了 130 个前 miRNA 基因中的所有 SNP，以评估它们在最常见的 ALL 亚型：高倍体和.中的易感性中的作用。在两个独立的队列中，我们发现 rs10406069 与 miR-5196 在发生高倍体 ALL 的风险之间存在显著关联。这种观察结果可以通过 SNP 对 miR-5196 表达的影响来解释，进而影响其靶基因。事实上，rs10406069 与参与姐妹染色质凝聚的.基因的表达变化有关。miR-5196 中的 rs10406069 可能在高倍体 ALL 风险中具有相关作用。
