Genetic and environmental factors related to the development of myopic maculopathy in Spanish patients

High myopia and the subsequent degenerative changes of the retina, choroid, and sclera, known as myopic maculopathy (MM), are a serious visual problem in many Asian countries, and are beginning to be so in the south of Europe, especially in the Mediterranean. It is therefore necessary to carry out g...

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Authors: Bilbao Malavé, Valentina, Recalde Maestre, Sergio, Bezunartea, Jaione, Hernández Sánchez, Maria, González Zamora, Jorge, Maestre Rellan, Leyre, Ruiz Moreno, José María, 1958-, Araiz, Javier, Arias Barquet, Lluís, Ruiz Medrano, Jorge, Flores Moreno, Ignacio, Llorente González, Sara, Fernández Sanz, Guillermo, Berrozpe Villabona, Clara, Velazquez Villoria, Alvaro, Carreño, Ester, Fernandez Robredo, Patricia, García Layana, Alfredo
Format: article
Status:Published version
Publication Date:2020
Country:España
Institution:Universidad de Barcelona
Repository:Dipòsit Digital de la UB
OAI Identifier:oai:diposit.ub.edu:2445/173458
Online Access:https://hdl.handle.net/2445/173458
Access Level:Open access
Keyword:Miopia
Etiologia
Myopia
Etiology
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spelling Genetic and environmental factors related to the development of myopic maculopathy in Spanish patientsBilbao Malavé, ValentinaRecalde Maestre, SergioBezunartea, JaioneHernández Sánchez, MariaGonzález Zamora, JorgeMaestre Rellan, LeyreRuiz Moreno, José María, 1958-Araiz, JavierArias Barquet, LluísRuiz Medrano, JorgeFlores Moreno, IgnacioLlorente González, SaraFernández Sanz, GuillermoBerrozpe Villabona, ClaraVelazquez Villoria, AlvaroCarreño, EsterFernandez Robredo, PatriciaGarcía Layana, AlfredoMiopiaEtiologiaMyopiaEtiologyHigh myopia and the subsequent degenerative changes of the retina, choroid, and sclera, known as myopic maculopathy (MM), are a serious visual problem in many Asian countries, and are beginning to be so in the south of Europe, especially in the Mediterranean. It is therefore necessary to carry out genetic and environmental studies to determine the possible causes of this disease. This study aims to verify if the genetic factors that have been most related to Asian populations are also associated in two Spanish cohorts. Eight SNPs from six genes (PAX6,SCO2,CCDC102B,BLID,chromosome 15q14, andCOL8A1) along with demographic, ophthalmic and environmental factors were analysed in two cohorts from a total of 365 highly myopic subjects and 177 control subjects. The genetic analysis showed thatCOL8A1SNP rs13095226 was associated with the development of choroidal neovascularization (CNV) and also seems to play an important role in the increase of axial length. The SNP rs634990 ofchromosome 15q14also showed a significant association with MM, although this was lost after the Bonferroni correction. Additional demographic and environmental factors, namely age, sex, smoking status, and pregnancy history, were also found to be associated with MM and CNV in this population.Public Library of Science (PLoS)2020info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://hdl.handle.net/2445/173458Articles publicats en revistes (Ciències Clíniques)reponame:Dipòsit Digital de la UBinstname:Universidad de BarcelonaInglésReproducció del document publicat a: https://doi.org/10.1371/journal.pone.0236071PLoS One, 2020, vol. 15, num. 7, p. e0236071https://doi.org/10.1371/journal.pone.0236071cc by (c) Bilbao Malavé et al., 2020http://creativecommons.org/licenses/by/3.0/es/info:eu-repo/semantics/openAccessoai:diposit.ub.edu:2445/1734582026-05-27T06:46:51Z
dc.title.none.fl_str_mv Genetic and environmental factors related to the development of myopic maculopathy in Spanish patients
title Genetic and environmental factors related to the development of myopic maculopathy in Spanish patients
spellingShingle Genetic and environmental factors related to the development of myopic maculopathy in Spanish patients
Bilbao Malavé, Valentina
Miopia
Etiologia
Myopia
Etiology
title_short Genetic and environmental factors related to the development of myopic maculopathy in Spanish patients
title_full Genetic and environmental factors related to the development of myopic maculopathy in Spanish patients
title_fullStr Genetic and environmental factors related to the development of myopic maculopathy in Spanish patients
title_full_unstemmed Genetic and environmental factors related to the development of myopic maculopathy in Spanish patients
title_sort Genetic and environmental factors related to the development of myopic maculopathy in Spanish patients
dc.creator.none.fl_str_mv Bilbao Malavé, Valentina
Recalde Maestre, Sergio
Bezunartea, Jaione
Hernández Sánchez, Maria
González Zamora, Jorge
Maestre Rellan, Leyre
Ruiz Moreno, José María, 1958-
Araiz, Javier
Arias Barquet, Lluís
Ruiz Medrano, Jorge
Flores Moreno, Ignacio
Llorente González, Sara
Fernández Sanz, Guillermo
Berrozpe Villabona, Clara
Velazquez Villoria, Alvaro
Carreño, Ester
Fernandez Robredo, Patricia
García Layana, Alfredo
author Bilbao Malavé, Valentina
author_facet Bilbao Malavé, Valentina
Recalde Maestre, Sergio
Bezunartea, Jaione
Hernández Sánchez, Maria
González Zamora, Jorge
Maestre Rellan, Leyre
Ruiz Moreno, José María, 1958-
Araiz, Javier
Arias Barquet, Lluís
Ruiz Medrano, Jorge
Flores Moreno, Ignacio
Llorente González, Sara
Fernández Sanz, Guillermo
Berrozpe Villabona, Clara
Velazquez Villoria, Alvaro
Carreño, Ester
Fernandez Robredo, Patricia
García Layana, Alfredo
author_role author
author2 Recalde Maestre, Sergio
Bezunartea, Jaione
Hernández Sánchez, Maria
González Zamora, Jorge
Maestre Rellan, Leyre
Ruiz Moreno, José María, 1958-
Araiz, Javier
Arias Barquet, Lluís
Ruiz Medrano, Jorge
Flores Moreno, Ignacio
Llorente González, Sara
Fernández Sanz, Guillermo
Berrozpe Villabona, Clara
Velazquez Villoria, Alvaro
Carreño, Ester
Fernandez Robredo, Patricia
García Layana, Alfredo
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Miopia
Etiologia
Myopia
Etiology
topic Miopia
Etiologia
Myopia
Etiology
description High myopia and the subsequent degenerative changes of the retina, choroid, and sclera, known as myopic maculopathy (MM), are a serious visual problem in many Asian countries, and are beginning to be so in the south of Europe, especially in the Mediterranean. It is therefore necessary to carry out genetic and environmental studies to determine the possible causes of this disease. This study aims to verify if the genetic factors that have been most related to Asian populations are also associated in two Spanish cohorts. Eight SNPs from six genes (PAX6,SCO2,CCDC102B,BLID,chromosome 15q14, andCOL8A1) along with demographic, ophthalmic and environmental factors were analysed in two cohorts from a total of 365 highly myopic subjects and 177 control subjects. The genetic analysis showed thatCOL8A1SNP rs13095226 was associated with the development of choroidal neovascularization (CNV) and also seems to play an important role in the increase of axial length. The SNP rs634990 ofchromosome 15q14also showed a significant association with MM, although this was lost after the Bonferroni correction. Additional demographic and environmental factors, namely age, sex, smoking status, and pregnancy history, were also found to be associated with MM and CNV in this population.
publishDate 2020
dc.date.none.fl_str_mv 2020
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/2445/173458
url https://hdl.handle.net/2445/173458
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Reproducció del document publicat a: https://doi.org/10.1371/journal.pone.0236071
PLoS One, 2020, vol. 15, num. 7, p. e0236071
https://doi.org/10.1371/journal.pone.0236071
dc.rights.none.fl_str_mv cc by (c) Bilbao Malavé et al., 2020
http://creativecommons.org/licenses/by/3.0/es/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv cc by (c) Bilbao Malavé et al., 2020
http://creativecommons.org/licenses/by/3.0/es/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Public Library of Science (PLoS)
publisher.none.fl_str_mv Public Library of Science (PLoS)
dc.source.none.fl_str_mv Articles publicats en revistes (Ciències Clíniques)
reponame:Dipòsit Digital de la UB
instname:Universidad de Barcelona
instname_str Universidad de Barcelona
reponame_str Dipòsit Digital de la UB
collection Dipòsit Digital de la UB
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15,300719

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