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Genomic strategies to understand causes of keratoconus
Keratoconus (KTCN) is a degenerative disorder of the eye characterized by the conical shape and thinning of the cornea. The abnormal structure of KTCN-affected cornea results in loss of visual acuity. While many studies examine how environmental factors influence disease development, finding the gen...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Berlin Heidelberg
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5357269/ https://www.ncbi.nlm.nih.gov/pubmed/28032277 http://dx.doi.org/10.1007/s00438-016-1283-z |
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author | Karolak, Justyna A. Gajecka, Marzena |
author_facet | Karolak, Justyna A. Gajecka, Marzena |
author_sort | Karolak, Justyna A. |
collection | PubMed |
description | Keratoconus (KTCN) is a degenerative disorder of the eye characterized by the conical shape and thinning of the cornea. The abnormal structure of KTCN-affected cornea results in loss of visual acuity. While many studies examine how environmental factors influence disease development, finding the genetic triggers has been a major emphasis of KTCN research. This paper focuses on genomic strategies that were implemented for finding candidate genes, including linkage and association studies, and presents different approaches of mutation screening. The advantages and limitations of particular tools are discussed based on literature and personal experience. Since etiology underlying KTCN is complex, numerous findings indicating heterogeneity of genetic factors involved KTCN etiology are presented. |
format | Online Article Text |
id | pubmed-5357269 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | Springer Berlin Heidelberg |
record_format | MEDLINE/PubMed |
spelling | pubmed-53572692017-03-30 Genomic strategies to understand causes of keratoconus Karolak, Justyna A. Gajecka, Marzena Mol Genet Genomics Review Keratoconus (KTCN) is a degenerative disorder of the eye characterized by the conical shape and thinning of the cornea. The abnormal structure of KTCN-affected cornea results in loss of visual acuity. While many studies examine how environmental factors influence disease development, finding the genetic triggers has been a major emphasis of KTCN research. This paper focuses on genomic strategies that were implemented for finding candidate genes, including linkage and association studies, and presents different approaches of mutation screening. The advantages and limitations of particular tools are discussed based on literature and personal experience. Since etiology underlying KTCN is complex, numerous findings indicating heterogeneity of genetic factors involved KTCN etiology are presented. Springer Berlin Heidelberg 2016-12-28 2017 /pmc/articles/PMC5357269/ /pubmed/28032277 http://dx.doi.org/10.1007/s00438-016-1283-z 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 Karolak, Justyna A. Gajecka, Marzena Genomic strategies to understand causes of keratoconus |
title | Genomic strategies to understand causes of keratoconus |
title_full | Genomic strategies to understand causes of keratoconus |
title_fullStr | Genomic strategies to understand causes of keratoconus |
title_full_unstemmed | Genomic strategies to understand causes of keratoconus |
title_short | Genomic strategies to understand causes of keratoconus |
title_sort | genomic strategies to understand causes of keratoconus |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5357269/ https://www.ncbi.nlm.nih.gov/pubmed/28032277 http://dx.doi.org/10.1007/s00438-016-1283-z |
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