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The Interplay between miRNA-Related Variants and Age-Related Macular Degeneration: EVIDENCE of Association of MIR146A and MIR27A

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 w...

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Autores principales: Strafella, Claudia, Errichiello, Valeria, Caputo, Valerio, Aloe, Gianluca, Ricci, Federico, Cusumano, Andrea, Novelli, Giuseppe, Giardina, Emiliano, Cascella, Raffaella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6480223/
https://www.ncbi.nlm.nih.gov/pubmed/30934838
http://dx.doi.org/10.3390/ijms20071578
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author Strafella, Claudia
Errichiello, Valeria
Caputo, Valerio
Aloe, Gianluca
Ricci, Federico
Cusumano, Andrea
Novelli, Giuseppe
Giardina, Emiliano
Cascella, Raffaella
author_facet Strafella, Claudia
Errichiello, Valeria
Caputo, Valerio
Aloe, Gianluca
Ricci, Federico
Cusumano, Andrea
Novelli, Giuseppe
Giardina, Emiliano
Cascella, Raffaella
author_sort Strafella, Claudia
collection PubMed
description 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.
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spelling pubmed-64802232019-04-29 The Interplay between miRNA-Related Variants and Age-Related Macular Degeneration: EVIDENCE of Association of MIR146A and MIR27A Strafella, Claudia Errichiello, Valeria Caputo, Valerio Aloe, Gianluca Ricci, Federico Cusumano, Andrea Novelli, Giuseppe Giardina, Emiliano Cascella, Raffaella Int J Mol Sci Article 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. MDPI 2019-03-29 /pmc/articles/PMC6480223/ /pubmed/30934838 http://dx.doi.org/10.3390/ijms20071578 Text en © 2019 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Strafella, Claudia
Errichiello, Valeria
Caputo, Valerio
Aloe, Gianluca
Ricci, Federico
Cusumano, Andrea
Novelli, Giuseppe
Giardina, Emiliano
Cascella, Raffaella
The Interplay between miRNA-Related Variants and Age-Related Macular Degeneration: EVIDENCE of Association of MIR146A and MIR27A
title The Interplay between miRNA-Related Variants and Age-Related Macular Degeneration: EVIDENCE of Association of MIR146A and MIR27A
title_full The Interplay between miRNA-Related Variants and Age-Related Macular Degeneration: EVIDENCE of Association of MIR146A and MIR27A
title_fullStr The Interplay between miRNA-Related Variants and Age-Related Macular Degeneration: EVIDENCE of Association of MIR146A and MIR27A
title_full_unstemmed The Interplay between miRNA-Related Variants and Age-Related Macular Degeneration: EVIDENCE of Association of MIR146A and MIR27A
title_short The Interplay between miRNA-Related Variants and Age-Related Macular Degeneration: EVIDENCE of Association of MIR146A and MIR27A
title_sort interplay between mirna-related variants and age-related macular degeneration: evidence of association of mir146a and mir27a
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6480223/
https://www.ncbi.nlm.nih.gov/pubmed/30934838
http://dx.doi.org/10.3390/ijms20071578
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