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Instability in X chromosome inactivation patterns in AMD: a new risk factor?
Years ago, it was thought that a genetic component was the fundamental cause of a number retinopathy diseases including age related macular degeneration (AMD). Since then, information has emerged about novel genes that contribute to various forms of AMD and other retinopathies that have been eluding...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medical Hypothesis, Discovery & Innovation Ophthalmology
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3939760/ https://www.ncbi.nlm.nih.gov/pubmed/24600647 |
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author | Vladan, Bajic Biljana, Spremo-Potparevic Mandusic, Vesna Zorana, Milicevic Zivkovic, Lada |
author_facet | Vladan, Bajic Biljana, Spremo-Potparevic Mandusic, Vesna Zorana, Milicevic Zivkovic, Lada |
author_sort | Vladan, Bajic |
collection | PubMed |
description | Years ago, it was thought that a genetic component was the fundamental cause of a number retinopathy diseases including age related macular degeneration (AMD). Since then, information has emerged about novel genes that contribute to various forms of AMD and other retinopathies that have been eluding researchers for years. In the genetic sense, only the APOE 2 and 4 genes have been found to be a risk factor for sporadic AMD. But, a recent Genome wide association study (GWAS) revealed that an alteration of five SNIPs on the X chromosome in a gene named DIAPH2 may be a susceptibility gene for AMD. Furthermore, the gene DIAPH2 showed to have a polygenic pleiotropy for premature ovarian failure (POF) and AMD in a cohort of women. POF is highly associated with X chromosome skewing, an epigenetic alteration of the inactivation process of the X chromosome. These findings suggest a hypothesis that an epigenetic alteration on the inactivation centres of the X chromosome (or skewing) relates not only to aging, but might be a novel property that affects women with AMD more often than men. |
format | Online Article Text |
id | pubmed-3939760 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2013 |
publisher | Medical Hypothesis, Discovery & Innovation Ophthalmology |
record_format | MEDLINE/PubMed |
spelling | pubmed-39397602014-03-05 Instability in X chromosome inactivation patterns in AMD: a new risk factor? Vladan, Bajic Biljana, Spremo-Potparevic Mandusic, Vesna Zorana, Milicevic Zivkovic, Lada Med Hypothesis Discov Innov Ophthalmol Review Years ago, it was thought that a genetic component was the fundamental cause of a number retinopathy diseases including age related macular degeneration (AMD). Since then, information has emerged about novel genes that contribute to various forms of AMD and other retinopathies that have been eluding researchers for years. In the genetic sense, only the APOE 2 and 4 genes have been found to be a risk factor for sporadic AMD. But, a recent Genome wide association study (GWAS) revealed that an alteration of five SNIPs on the X chromosome in a gene named DIAPH2 may be a susceptibility gene for AMD. Furthermore, the gene DIAPH2 showed to have a polygenic pleiotropy for premature ovarian failure (POF) and AMD in a cohort of women. POF is highly associated with X chromosome skewing, an epigenetic alteration of the inactivation process of the X chromosome. These findings suggest a hypothesis that an epigenetic alteration on the inactivation centres of the X chromosome (or skewing) relates not only to aging, but might be a novel property that affects women with AMD more often than men. Medical Hypothesis, Discovery & Innovation Ophthalmology 2013 /pmc/articles/PMC3939760/ /pubmed/24600647 Text en © 2013, Medical Hypothesis, Discovery & Innovation (MEHDI) Ophthalmology Journal This is an Open Access article distributed under the terms of the Creative Commons Attribution License, (http://creativecommons.org/licenses/by/3.0/) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Review Vladan, Bajic Biljana, Spremo-Potparevic Mandusic, Vesna Zorana, Milicevic Zivkovic, Lada Instability in X chromosome inactivation patterns in AMD: a new risk factor? |
title | Instability in X chromosome inactivation patterns in AMD: a new risk factor? |
title_full | Instability in X chromosome inactivation patterns in AMD: a new risk factor? |
title_fullStr | Instability in X chromosome inactivation patterns in AMD: a new risk factor? |
title_full_unstemmed | Instability in X chromosome inactivation patterns in AMD: a new risk factor? |
title_short | Instability in X chromosome inactivation patterns in AMD: a new risk factor? |
title_sort | instability in x chromosome inactivation patterns in amd: a new risk factor? |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3939760/ https://www.ncbi.nlm.nih.gov/pubmed/24600647 |
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