miRNA polymorphisms are recently identified as a risk factor for various cancers, and it is associated with change in the expression of target genes in vitro. rs11614913 polymorphism in miR196a2 was associated with risk of glioma in Chinese population. In this study, we have evaluated the role of rs11614913 polymorphism and glioma risk in Indian population in 180 cases and controls. Seventy-two glioma tissue-blood pairs were also assessed for mutation in this SNP. Further, the effect of this polymorphism on mature miR196a2 expression and HOXC8 gene expression was analysed in 33 glioma tissue samples with different genotypes. Allelic discrimination assay was performed for genotyping and quantitative real time PCR for the expression of miR196a2 and HOXC8 gene. We could not find any association between rs11614913 polymorphism and glioma risk in Indian population. The rs11614913 genotyping of glioma tissue and blood pair revealed presence of mutations showing changes from C to T allele in majority of samples. The expression of the mature miR196a2 was significantly high in glioma samples, but there was no difference in expression with genotype. HOXC8 gene expression was not significantly different in glioma tissue when compared to non-glioma and interestingly there was a significant difference in expression with different genotypes, especially TT genotype was showing over expression when compared to other genotypes. Our study suggests that the rs11614913 polymorphism does not affect the mature miRNA expression, but shows its effect through target gene HOXC8 expression in glioma.
Keywords: Gene expression; Glioma; HOXC8; Indian population; miR196a2; rs11614913 polymorphism.