# Genetic association between microRNA gene polymorphisms and polycystic ovary syndrome susceptibility: A systematic review and meta‐analysis

**Authors:** Amaxsell Thiago Barros de Souza, Ketelly Leônara da Silva Torres, Ayane Cristine Alves Sarmento, Ariadne Sarynne Barbosa de Lima, Kleyton Santos de Medeiros, Deyse de Souza Dantas, Ricardo Ney Cobucci, Ana Katherine Gonçalves, Janaina Cristiana de Oliveira Crispim

PMC · DOI: 10.1002/ijgo.70255 · 2025-06-10

## TL;DR

This study reviews and combines data from multiple studies to explore how genetic variations in microRNA genes may be linked to the risk of developing polycystic ovary syndrome.

## Contribution

The study provides a meta-analysis of miRNA gene polymorphisms and PCOS risk, identifying specific genotypes associated with susceptibility.

## Key findings

- The GG genotype of miR-146a rs2910164 is associated with a protective effect against PCOS.
- The GC, CC, and TT genotypes of miR-196a-2 rs11614913 are linked to increased PCOS risk.
- The certainty of evidence for these associations is low, suggesting a need for larger studies.

## Abstract

Polycystic ovary syndrome (PCOS) is a prevalent endocrine disorder in women of reproductive age, associated with genetic and environmental factors, including microRNA (miRNA) gene polymorphisms.

To evaluate the association between miRNA gene polymorphisms and PCOS.

PubMed, Embase, Web of Science, and Scopus databases were searched to September 2024, using MeSH terms including “MicroRNAs”, “Polymorphism, Single Nucleotide,” and “Polycystic Ovary Syndrome”.

Case–control studies investigating the relationship between miRNA gene polymorphism and PCOS were included.

Two researchers collected the data independently. The risk of bias was assessed using the Newcastle‐Ottawa Scale (NOS). Data synthesis was performed using RevMan 5.4, and the strength of the evidence was evaluated using the grading of recommendations assessment, development, and evaluation (GRADE) approach.

Five case–control studies were included in the systematic review, encompassing 985 patients with PCOS and 1004 healthy controls. The meta‐analysis included data from 870 PCOS patients and 889 controls. The GG genotype of miR‐146a rs2910164 was significantly associated with a protective effect against PCOS, while the GC and CC genotypes were linked to increased PCOS risk. In contrast, the TT genotype of miR‐196a‐2 rs11614913 was associated with heightened PCOS susceptibility. However, the certainty of evidence supporting these associations was low, indicating that the true effects may differ from the observed estimates.

miRNA polymorphisms, specifically the GG genotype of miR‐146a rs2910164 and the GC, CC, and TT genotypes of miR‐196a‐2 rs11614913 seem to be associated with an increased risk of PCOS, warranting further large‐scale studies to validate these associations.

## Linked entities

- **Genes:** MIR146A (microRNA 146a) [NCBI Gene 406938], MIR196A2 (microRNA 196a-2) [NCBI Gene 406973]
- **Diseases:** Polycystic Ovary Syndrome (MONDO:0008487)

## Full-text entities

- **Genes:** MIR146A (microRNA 146a) [NCBI Gene 406938] {aka MIRN146, MIRN146A, miR-146a, miRNA146A}, MIR196A2 (microRNA 196a-2) [NCBI Gene 406973] {aka MIRN196-2, MIRN196A2, mir-196a-2}
- **Diseases:** PCOS (MESH:D011085), endocrine disorder (MESH:D004700)
- **Species:** Homo sapiens (human, species) [taxon 9606]
- **Mutations:** rs2910164, rs11614913

## Figures

2 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12553106/full.md

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Source: https://tomesphere.com/paper/PMC12553106