MicroRNA target site polymorphisms and human disease.
Praveen Sethupathy1, Francis S Collins
1National Human Genome Research Institute, Bethesda, MD 20892-8004, USA.
Trends in Genetics : TIG
|September 10, 2008
Summary
Genetic variants in microRNA target sites are linked to human diseases, but rigorous evidence is often lacking. Future studies need robust genetic and functional data to confirm the role of microRNA target site variations in disease.
Area of Science:
- Genetics
- Molecular Biology
- Biochemistry
Background:
- MicroRNAs (miRNAs) are key regulators of gene expression in eukaryotes.
- miRNA dysregulation is implicated in numerous biological processes and human diseases.
- Genetic variants in miRNA target sites are proposed disease associations, but require validation.
Purpose of the Study:
- To critically assess the evidence linking genetic variants in miRNA target sites to human diseases.
- To propose recommendations for future research in this area.
Main Methods:
- Review and critical assessment of existing studies on miRNA target site variants and disease association.
- Identification of criteria for robust genetic and functional evidence.
Main Results:
- Few existing studies provide sufficient combined genetic and functional evidence for miRNA target site variations' role in disease.
- Significant potential for miRNA target site variations to influence human health and disease.
Conclusions:
- Future investigations must employ unbiased association studies and rigorous functional experiments.
- Clearer understanding of microRNA target site variations' relevance in human diseases requires improved research methodologies.
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