The interplay between mirna-related variants and age-related macular degeneration: Evidence of association of mir146a and mir27a

Claudia Strafella, Valeria Errichiello, Valerio Caputo, Gianluca Aloe, Federico Ricci, Andrea Cusumano, Giuseppe Novelli, Emiliano Giardina, Raffaella Cascella

Research output: Contribution to journalArticlepeer-review


The complex interplay among genetic, epigenetic, and environmental variables is the basis for the multifactorial origin of age-related macular degeneration (AMD). Previous results highlighted that single nucleotide polymorphisms (SNPs) of CFH, ARMS2, IL-8, TIMP3, SLC16A8, RAD51B, VEGFA, and COL8A1 were significantly associated with the risk of AMD in the Italian population. Given these data, this study aimed to investigate the impact of SNPs in genes coding for MIR146A, MIR31, MIR23A, MIR27A, MIR20A, and MIR150 on their susceptibility to AMD. Nine-hundred and seventy-six patients with exudative AMD and 1000 controls were subjected to an epigenotyping analysis through real-time PCR and direct sequencing. Biostatistical and bioinformatic analysis was performed to evaluate the association with susceptibility to AMD. These analyses reported that the SNPs rs11671784 (MIR27A, G/A) and rs2910164 (MIR146A, C/G) were significantly associated with AMD risk. Interestingly, the bioinformatic analysis showed that MIR27A and MIR146A take part in the angiogenic and inflammatory pathways underlying AMD etiopathogenesis. Thus, polymorphisms within the pre-miRNA sequences are likely to affect their functional activity, especially the interaction with specific targets. Therefore, our study represents a step forward in the comprehension of the mechanisms leading to AMD onset and progression, which certainly include the involvement of epigenetic modifications.

Original languageEnglish
Article number1578
JournalInternational Journal of Molecular Sciences
Issue number7
Publication statusPublished - Apr 1 2019


  • AMD
  • Choroidal neovascularization
  • Epigenetics
  • Inflammation
  • MiRNAs
  • Neurodegeneration
  • Susceptibility

ASJC Scopus subject areas

  • Catalysis
  • Molecular Biology
  • Spectroscopy
  • Computer Science Applications
  • Physical and Theoretical Chemistry
  • Organic Chemistry
  • Inorganic Chemistry


Dive into the research topics of 'The interplay between mirna-related variants and age-related macular degeneration: Evidence of association of mir146a and mir27a'. Together they form a unique fingerprint.

Cite this