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Related Concept Videos

MicroRNAs01:22

MicroRNAs

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MicroRNA (miRNA) are short, regulatory RNA transcribed from introns (non-coding regions of a gene) or intergenic regions (stretches of DNA present between genes). Several processing steps are required to form biologically active, mature miRNA. The initial transcript, called primary miRNA (pri-mRNA), base-pairs with itself, forming a stem-loop structure. Within the nucleus, an endonuclease enzyme, called Drosha, shortens the stem-loop structure into hairpin-shaped pre-miRNA. After the pre-miRNA...
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Related Experiment Video

Updated: Aug 5, 2025

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
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In silico prioritisation of microRNA-associated common variants in multiple sclerosis.

Ifeolutembi A Fashina1,2,3, Claire E McCoy1, Simon J Furney4

  • 1School of Pharmacy and Biomolecular Sciences, Royal College of Surgeons in Ireland, Dublin, Ireland.

Human Genomics
|March 29, 2023
PubMed
Summary

This study investigated microRNA variants in multiple sclerosis (MS) using large genome-wide association studies (GWAS). We identified 30 candidate variants, highlighting their potential role in MS pathogenesis and non-coding RNA regulation.

Keywords:
3′UTR binding sitesCommon variantsGWASNon-coding RNASeedmicroRNAmicroRNA–target prediction

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Area of Science:

  • Genetics
  • Molecular Biology
  • Neuroscience

Background:

  • Genome-wide association studies (GWAS) have identified over 200 autosomal variants linked to multiple sclerosis (MS).
  • MicroRNA (miRNA) dysregulation is implicated in MS, yet miRNA-associated variants remain underexplored.
  • This research leverages the largest publicly available MS GWAS data (47,429 cases, 68,374 controls).

Purpose of the Study:

  • To explore the impact of microRNA-associated variants on multiple sclerosis (MS) susceptibility.
  • To identify and prioritize single nucleotide polymorphisms (SNPs) affecting miRNA function or their target binding sites.
  • To investigate the role of non-coding RNA variation in MS pathogenesis.

Main Methods:

  • Identified SNPs within miRNA coordinates, flanking regions, and predicted 3'UTR target sites using miRBase, TargetScan, RNA22, and dbSNP.
  • Intersected miRNA-associated SNPs with MS GWAS summary statistics to identify candidate variants.
  • Prioritized SNPs based on known MS associations, linkage disequilibrium, or miRNA-specific thresholds, and predicted their functional effects using TargetScan, miRVaS, and ADmiRE.

Main Results:

  • Identified 30 candidate microRNA-associated variants meeting prioritization criteria.
  • Highlighted specific variants: rs1414273 (MIR548AC) and 3'UTR binding site variants in SLC2A4RG (rs6742), CD27 (rs1059501), MMEL1 (rs881640), and BCL2L13 (rs2587100).
  • Determined the predicted effects of these prioritized SNPs on miRNA stability and target recognition.

Conclusions:

  • Systematically examined the functional, structural, and regulatory effects of candidate MS variants in miRNAs and their 3'UTR targets.
  • Identified candidate microRNA-associated MS SNPs, emphasizing the value of prioritizing non-coding RNA variation in GWAS.
  • These findings suggest that candidate SNPs may influence miRNA regulation in MS patients, representing the first comprehensive investigation of its kind in MS.