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This research aims to explore potential causal associations between specific miRNAs and breast cancer risk.

February 9, 2026MedicineOpen Access

Identification of putative causal associations between MicroRNAs and breast cancer via Mendelian randomization and bioinformatic analysis

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Mendelian randomization reveals potential protective miRNAs against breast cancer, suggesting new biomarkers.

This research aims to explore potential causal associations between specific miRNAs and breast cancer risk.
Utilized a Mendelian randomization framework to establish causal relationships.
Extracted miRNA expression quantitative trait loci from two independent cohorts.
Conducted 2-sample MR analyses using inverse-variance weighted and MR-Egger methods.
Performed differential expression analysis and univariate Cox regression.
Executed enrichment analyses to identify relevant biological pathways.
Identified hsa-miR-100-5p, hsa-miR-125b-5p, and hsa-miR-339-5p as having protective associations with breast cancer risk.
Found 1291 survival-associated differentially expressed genes, with 39 overlapping targets linked to miRNA effects.
Enrichment analyses indicated involvement in cell cycle regulation and p53 signaling pathways.
Validation cohort confirmed hsa-miR-339-5p's protective effect, while others did not reach significance.
Pan-cancer analysis revealed miRNA expression changes across tumors with negative correlations to target genes.

Ren et al. (2026) studied this question.

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