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
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
Nepřihlášeným uživatelům se plný text nezobrazuje
Pro tento záznam nejsou dostupné žádné jednotky.