MicroRNA target site polymorphisms and human disease

Trends Genet. 2008 Oct;24(10):489-97. doi: 10.1016/j.tig.2008.07.004. Epub 2008 Sep 6.


MicroRNAs (miRNAs) are important regulators of eukaryotic gene expression. They have been implicated in a broad range of biological processes, and miRNA-related genetic alterations probably underlie more human diseases than currently appreciated. Several studies have identified genetic variants in miRNA target sites that are claimed to be associated with disorders ranging from Parkinson's disease to cancer. However, careful assessment of these studies indicates that very few provide a combination of rigorous genetic and functional evidence. We therefore suggest a set of concrete recommendations to guide future investigations. Specifically, we highlight the importance of unbiased association studies and follow-up functional experiments for providing a clearer picture of the extent to which microRNA target site variations are relevant in various human diseases.

Publication types

  • Review

MeSH terms

  • B7-2 Antigen / genetics
  • Disease / genetics*
  • Estrogen Receptor alpha / genetics
  • Gene Expression Regulation / genetics*
  • Genetic Variation
  • HLA Antigens / genetics
  • HLA-G Antigens
  • Histocompatibility Antigens Class I / genetics
  • Humans
  • Membrane Proteins / genetics
  • Membrane Transport Proteins / genetics
  • MicroRNAs / genetics*
  • Nerve Tissue Proteins / genetics
  • Polymorphism, Single Nucleotide / physiology*
  • Receptor, Angiotensin, Type 1 / genetics
  • Receptor, Serotonin, 5-HT1B / genetics
  • Receptors, Serotonin / genetics
  • Receptors, Serotonin, 5-HT3
  • Tetrahydrofolate Dehydrogenase / genetics


  • B7-2 Antigen
  • CD86 protein, human
  • Estrogen Receptor alpha
  • HLA Antigens
  • HLA-G Antigens
  • HTR1B protein, human
  • HTR3E protein, human
  • Histocompatibility Antigens Class I
  • Membrane Proteins
  • Membrane Transport Proteins
  • MicroRNAs
  • Nerve Tissue Proteins
  • REEP1 protein, human
  • Receptor, Angiotensin, Type 1
  • Receptor, Serotonin, 5-HT1B
  • Receptors, Serotonin
  • Receptors, Serotonin, 5-HT3
  • SLITRK1 protein, human
  • Tetrahydrofolate Dehydrogenase