Genetic and environmental factors related to the development of myopic maculopathy in Spanish patients
Autor: | Jaione Bezunartea, José M. Ruiz-Moreno, Alvaro Velazquez-Villoria, Luis Arias, Guillermo Fernandez-Sanz, Javier Araiz-Iribarren, Alfredo García-Layana, Leyre Maestre-Rellan, Patricia Fernandez-Robredo, Sara Llorente-González, Ester Carreño, Valentina Bilbao-Malavé, Sergio Recalde, María Hernández-Sánchez, Jorge González-Zamora, Ignacio Flores-Moreno, Jorge Ruiz-Medrano, Clara Berrozpe-Villabona |
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Rok vydání: | 2020 |
Předmět: |
0301 basic medicine
Male Heredity Etiology genetic structures Single Nucleotide Polymorphisms Maternal Health Gene Expression Disease Eye Macular Degeneration 0302 clinical medicine Pregnancy Myopia Medicine and Health Sciences Visual Impairments education.field_of_study Multidisciplinary Obstetrics and Gynecology Middle Aged Genetic Mapping medicine.anatomical_structure Choroidal neovascularization Etiologia symbols Medicine Female medicine.symptom Anatomy Research Article Adult Genotype Science Ocular Anatomy Population Miopia Single-nucleotide polymorphism Variant Genotypes Environment Retina 03 medical and health sciences symbols.namesake Ocular System medicine Genetics SNP Humans education Alleles Aged business.industry Biology and Life Sciences medicine.disease eye diseases Ophthalmology 030104 developmental biology Bonferroni correction Spain 030221 ophthalmology & optometry Maculopathy Eyes Women's Health Choroid sense organs business Head Demography |
Zdroj: | PLoS ONE PLoS ONE, Vol 15, Iss 7, p e0236071 (2020) Dipòsit Digital de la UB Universidad de Barcelona |
ISSN: | 1932-6203 1309-5226 |
Popis: | 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. |
Databáze: | OpenAIRE |
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