IsomiR-eQTL: A Cancer-Specific Expression Quantitative Trait Loci Database of miRNAs and Their Isoforms

Int J Mol Sci. 2022 Oct 18;23(20):12493. doi: 10.3390/ijms232012493.

Abstract

The identification of expression quantitative trait loci (eQTL) is an important component in efforts to understand how genetic variants influence disease risk. MicroRNAs (miRNAs) are short noncoding RNA molecules capable of regulating the expression of several genes simultaneously. Recently, several novel isomers of miRNAs (isomiRs) that differ slightly in length and sequence composition compared to their canonical miRNAs have been reported. Here we present isomiR-eQTL, a user-friendly database designed to help researchers find single nucleotide polymorphisms (SNPs) that can impact miRNA (miR-eQTL) and isomiR expression (isomiR-eQTL) in 30 cancer types. The isomiR-eQTL includes a total of 152,671 miR-eQTLs and 2,390,805 isomiR-eQTLs at a false discovery rate (FDR) of 0.05. It also includes 65,733 miR-eQTLs overlapping known cancer-associated loci identified through genome-wide association studies (GWAS). To the best of our knowledge, this is the first study investigating the impact of SNPs on isomiR expression at the genome-wide level. This database may pave the way for researchers toward finding a model for personalised medicine in which miRNAs, isomiRs, and genotypes are utilised.

Keywords: GWAS; isomiR; isomiR-eQTL; miR-eQTL; miRNA.

MeSH terms

  • Genome-Wide Association Study
  • Humans
  • MicroRNAs* / genetics
  • MicroRNAs* / metabolism
  • Neoplasms* / genetics
  • Polymorphism, Single Nucleotide
  • Protein Isoforms / genetics
  • Quantitative Trait Loci

Substances

  • MicroRNAs
  • Protein Isoforms

Grants and funding

Afshin Moradi: Queensland University of Technology Postgraduate Research Award; J. Batra: National Health and Medical Research Council Career Development Fellowship, Advance Queensland Industry Research Fellowship.