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Candidate gene studies of diabetic retinopathy in human
Diabetic retinopathy (DR) is a multifactorial disease with complex pathophysiology. It is the main cause of blindness among the people in productive age. The purpose of this literature review is to highlight recent achievements in the genetics of diabetic retinopathy with particular focus on candida...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Netherlands
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5102952/ https://www.ncbi.nlm.nih.gov/pubmed/27730450 http://dx.doi.org/10.1007/s11033-016-4075-y |
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author | Priščáková, Petra Minárik, Gabriel Repiská, Vanda |
author_facet | Priščáková, Petra Minárik, Gabriel Repiská, Vanda |
author_sort | Priščáková, Petra |
collection | PubMed |
description | Diabetic retinopathy (DR) is a multifactorial disease with complex pathophysiology. It is the main cause of blindness among the people in productive age. The purpose of this literature review is to highlight recent achievements in the genetics of diabetic retinopathy with particular focus on candidate gene studies. We summarized most of the available published data about candidate genes for diabetic retinopathy with the goal to identify main genetic aspects. We conclude that genetic studies reported contradictory findings and no genetic variants meet criteria of a diagnostic marker, or significantly elucidate the root of DR development. Based on these findings it is important to continue with the research in the field of DR genetics, mainly due to the fact that currently new possibilities and approaches associated with utilization of next-generation sequencing are available. |
format | Online Article Text |
id | pubmed-5102952 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | Springer Netherlands |
record_format | MEDLINE/PubMed |
spelling | pubmed-51029522016-11-21 Candidate gene studies of diabetic retinopathy in human Priščáková, Petra Minárik, Gabriel Repiská, Vanda Mol Biol Rep Review Diabetic retinopathy (DR) is a multifactorial disease with complex pathophysiology. It is the main cause of blindness among the people in productive age. The purpose of this literature review is to highlight recent achievements in the genetics of diabetic retinopathy with particular focus on candidate gene studies. We summarized most of the available published data about candidate genes for diabetic retinopathy with the goal to identify main genetic aspects. We conclude that genetic studies reported contradictory findings and no genetic variants meet criteria of a diagnostic marker, or significantly elucidate the root of DR development. Based on these findings it is important to continue with the research in the field of DR genetics, mainly due to the fact that currently new possibilities and approaches associated with utilization of next-generation sequencing are available. Springer Netherlands 2016-10-11 2016 /pmc/articles/PMC5102952/ /pubmed/27730450 http://dx.doi.org/10.1007/s11033-016-4075-y Text en © The Author(s) 2016 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. |
spellingShingle | Review Priščáková, Petra Minárik, Gabriel Repiská, Vanda Candidate gene studies of diabetic retinopathy in human |
title | Candidate gene studies of diabetic retinopathy in human |
title_full | Candidate gene studies of diabetic retinopathy in human |
title_fullStr | Candidate gene studies of diabetic retinopathy in human |
title_full_unstemmed | Candidate gene studies of diabetic retinopathy in human |
title_short | Candidate gene studies of diabetic retinopathy in human |
title_sort | candidate gene studies of diabetic retinopathy in human |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5102952/ https://www.ncbi.nlm.nih.gov/pubmed/27730450 http://dx.doi.org/10.1007/s11033-016-4075-y |
work_keys_str_mv | AT priscakovapetra candidategenestudiesofdiabeticretinopathyinhuman AT minarikgabriel candidategenestudiesofdiabeticretinopathyinhuman AT repiskavanda candidategenestudiesofdiabeticretinopathyinhuman |