Hsa-miR-196a2 polymorphism increases the risk of acute lymphoblastic leukemia in Chinese children

• Hsa-miR-196a2 rs11614913 T > C was associated with the significantly increase the risk of childhood ALL.
• Difference was pronounced in the younger (≤6) subjects and parental non-drinker.
• Hsa-miR-196a2 rs11614913 TC genotype can increase the risk of B-phenotype ALL and the high-risk ALL.
• This is the first report on hsa-miR-196a2 polymorphism and Chinese childhood ALL risk.

Acute lymphoblastic leukemia (ALL) is a major cause of mortality and morbidity in childhood, and the causes of ALL are not completely understood. microRNAs (miRNAs) regulate various biological processes including organ development, cell growth regulation, cell differentiation, apoptosis, and tumorigenesis. We performed a case–control study with 570 childhood ALL cases and 673 cancer-free controls to investigate the association between hsa-miR-196a2 rs11614913 T > C polymorphism and ALL risk. The bioinformatics was used to estimate the potential target of hsa-miR-196a2. In the present study, the hsa-miR-196a2 variant TC heterozygote, and CC/TC genotypes were found to be associated with a significantly increased childhood ALL risk, compared with the TT wild-type homozygote (adjusted OR = 1.50, 95% CI = 1.15–1.95 for TC and OR = 1.40, 95% CI = 1.09–1.79 for CC/TC). Further, the difference was pronounced in younger (≤6) subjects or parental non-drinker. The significance of the increased risk is more obvious than the higher treatment branch. Additionally, we found that the rs11614913 TC genotype can increase B-phenotype ALL risk (OR = 1.37, 95% CI = 1.07–1.76). Finally, combination of three bioinformatics approaches revealed that HOXC8 may be the target gene of hsa-miR-196a2. Taken together, our finding suggested that hsa-miR-196a2 rs11614913 T > C may increase the risk of childhood ALL. Large studies with the function of hsa-miR-196a2 are needed in the further study.