Genetic associations of miRNA variants (miR-10a, miR-30c, miR-181a, miR-499b) with primary ovarian insufficiency in Korean women

Maturitas. 2025 Jan:191:108153. doi: 10.1016/j.maturitas.2024.108153. Epub 2024 Nov 7.

Abstract

Objectives: MicroRNAs (miRNAs) are pivotal in post-transcriptionally modulating gene expression in both animals and plants. This study investigates the relationship between microRNA polymorphisms and the occurrence of primary ovarian insufficiency in Korean women. Our hypothesis posits that polymorphisms in microRNAs-specifically miR-10aA > T, miR-30cA > G, miR-181aT > C, and miR-499bA > G-may be linked to primary ovarian insufficiency, influencing the risk of developing the condition.

Methods: We conducted a case-control study of 141 Korean women with primary ovarian insufficiency and 281 control individuals with at least one live birth and no history of pregnancy loss.

Results: Our findings indicate that various combinations of these four microRNA polymorphic sites are associated with an increased risk of primary ovarian insufficiency. The combination analysis indicated a significant decrease in the frequency of the miR-181a/miR-499b TC/AA allele combination in individuals with primary ovarian insufficiency (P < 0.05). Additionally, one-way analysis of variance of data from patients with primary ovarian insufficiency revealed that, in comparison with miR-181aTT, the miR-181aCC genotype was associated with significantly lower levels of both follicle-stimulating hormone and luteinizing hormone, suggesting potential protective effects.

Conclusions: Our data suggest that dysregulation of the miR-10aA > T, miR-30cA > G, miR-181aT > C, and miR-499bA > G polymorphisms in these microRNAs contributes to the regulation of target genes related to primary ovarian insufficiency.

Keywords: Primary ovarian insufficiency; Single-nucleotide polymorphism (SNP); microRNA.

MeSH terms

  • Adult
  • Case-Control Studies
  • East Asian People / genetics
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • MicroRNAs* / genetics
  • Polymorphism, Single Nucleotide
  • Primary Ovarian Insufficiency* / genetics
  • Republic of Korea

Substances

  • MicroRNAs
  • MIrn181 microRNA, human
  • MIRN499 microRNA, human