MicroRNA Polymorphisms and Human Disease Associations
Summary
MicroRNAs (miRNAs) are short, non-coding RNA molecules that fine-tune gene expression by guiding the silencing complex to complementary messenger RNAs. Genetic variation within miRNA genes or their target sites can alter miRNA biogenesis, stability or binding specificity, giving rise to single-nucleotide polymorphisms (SNPs) that influence disease risk and progression. Such miRNA polymorphisms have been linked to a spectrum of human disorders, including cardiovascular disease, autoimmune conditions, metabolic syndromes and malignancies. By modifying the interaction between miRNAs and their targets, these variants may disrupt regulatory networks governing inflammation, cell proliferation and apoptosis. Insights into miRNA polymorphisms thus offer new avenues for risk stratification, biomarker discovery and personalised therapeutics on a global scale.
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MicroRNA Polymorphisms and Human Disease Associations publication trend
The graph below shows the total number of articles in microrna polymorphisms and human disease associations across all publications each year (not limited to Nature Index journals).
Technical terms
MicroRNA (miRNA): A short (18–25 nt) non-coding RNA that regulates gene expression post-transcriptionally by base-pairing with target mRNAs.
Single-nucleotide polymorphism (SNP): A single base-pair variation in the genome occurring at appreciable frequency in a population.
Seed region: A conserved sequence of 6–8 nucleotides at the 5′ end of a miRNA essential for target recognition and binding specificity.
3′-untranslated region (3′-UTR): The portion of mRNA downstream of the coding sequence that can contain regulatory elements, including miRNA binding sites.
Phenome-wide association study (PheWAS): An approach that tests the association between a genetic variant and a broad range of clinical phenotypes simultaneously.
References
- Phenome-wide association study on miRNA-related sequence variants: the UK Biobank. Human Genomics (2023).
- MiR-146a rs2910164 (G/C) polymorphism is associated with the development and prognosis of acute coronary syndromes: an observational study including case control and validation cohort. Journal of Translational Medicine (2023).
- SNPs in microRNA target sites and their potential role in human disease. Open Biology (2017).
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