Functional genetic variation of human miRNAs and phenotypic consequences

Mamm Genome. 2008 Aug;19(7-8):503-9. doi: 10.1007/s00335-008-9137-6. Epub 2008 Sep 12.


A large number of human protein-coding genes are finely regulated by one or more microRNAs. Members of this small noncoding RNA family have emerged as important post-transcriptional regulators of gene expression and are involved in a number of disease phenotypes. Variability in the human genome is extensive and includes the common and rare single nucleotide polymorphisms (SNPs) and copy number variations (CNVs). The functional significance of the genome's variability is under intense investigation. In this article we review the emerging literature on how human genomic variation influences the outcome of microRNA targeting and the associated phenotypic effects. Illustrative examples are discussed that demonstrate the biological importance of functional polymorphisms affecting miRNA-mediated gene regulation.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Base Sequence
  • Genetic Variation*
  • Humans
  • MicroRNAs / genetics*
  • MicroRNAs / metabolism
  • Phenotype
  • Polymorphism, Genetic
  • RNA, Messenger / genetics
  • RNA, Messenger / metabolism


  • MicroRNAs
  • RNA, Messenger