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

Bilbao-Malavé, V. (Valentina); Recalde, S. (Sergio); Bezunartea, J. (Jaione); Hernandez-Sanchez, M. (María); González-Zamora, J. (Jorge); Maestre-Rellan, L. (Leyre); Ruiz-Moreno, J.M. (José María); Araiz-Iribarren, J. (Javier); Arias, L. (Luis); Ruiz-Medrano, J. (Jorge); Flores-Moreno, I. (Ignacio); Llorente-González, S. (Sara); Fernández-Sanz, G. (Guillermo); Berrozpe-Villabona, C. (Clara); Velazquez-Villoria, A. (Alvaro); Carreño, E. (Ester); Fernandez-Robredo, P. (Patricia); Garcia-Layana, A. (Alfredo)

Issue Date:

2020

Project:

info:eu-repo/grantAgreement/MINECO/Ayudas a Redes Temáticas de Investigación Cooperativa RETICS (AE de Salud 2016)/RD16%2F0008%2F0021/ES/OFTARED

ISSN:

1932-6203

Note:

This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Citation:

Bilbao-Malavé, V. (Valentina); Recalde, S. (Sergio); Bezunartea, J. (Jaione); et al. "Genetic and environmental factors related to the development of myopic maculopathy in Spanish patients". PLoS ONE. 15 (7), 2020,

Abstract

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, and COL8A1) 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 that COL8A1 SNP 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 of chromosome 15q14 also 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.

URI:

https://hdl.handle.net/10171/66324

DOI:

10.1371/journal.pone.0236071

Appears in Collections:

DA - CUN - Oftalmología - Artículos de revista

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