Evaluation of 10 AMD Associated Polymorphisms as a Cause of Choroidal Neovascularization in Highly Myopic Eyes

Choroidal neovascularization (CNV) commonly occurs in age related macular degeneration and pathological myopia patients. In this study we conducted a case-control prospective study including 431 participants. The aim of this study was to determine the potential association between 10 single nucleoti...

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Detalles Bibliográficos
Autores: Velázquez Villoria, Alvaro, Recalde, Sergio, Anter, Jaouad, Bezunartea, Jaione, Hernández Sánchez, Maria, García García, Laura, Alonso, Elena, Ruiz Moreno, José María, Araiz Iribarren, José Javier, Fernández Robredo, Patricia, García Layana, Alfredo
Tipo de recurso: artículo
Fecha de publicación:2016
País:España
Institución:Universidad del País Vasco
Repositorio:Addi. Archivo Digital para la Docencia y la Investigación
OAI Identifier:oai:addi.ehu.eus:10810/32539
Acceso en línea:http://hdl.handle.net/10810/32539
Access Level:acceso abierto
Palabra clave:elderly japanese population
age-related maculopathy
complement factor-i
macular degeneration
pathological myopia
refractive error
candidate gene
risk-factors
COL1A1 gene
susceptibility
gene
Descripción
Sumario:Choroidal neovascularization (CNV) commonly occurs in age related macular degeneration and pathological myopia patients. In this study we conducted a case-control prospective study including 431 participants. The aim of this study was to determine the potential association between 10 single nucleotide polymorphisms (SNPs) located in 4 different genetic regions (CFI, COL8A1, LIPC, and APOE), and choroidal neovascularization in age-related macular degeneration and the development of choroidal neovascularization in highly myopic eyes of a Caucasian population. Univariate and multivariate logistic regression analysis adjusted for age, sex and hypertension was performed for each allele, genotype and haplotype frequency analysis. We found that in the univariate analysis that both single-nucleotide polymorphisms in COL8A1 gene (rs13095226 and rs669676) together with age, sex and hypertension were significantly associated with myopic CNV development in Spanish patients (p<0.05). After correcting for multiple testing none of the polymorphisms studied remained significantly associated with myopic CNV (p>0.05); however, analysis of the axial length between genotypes of rs13095226 revealed an important influence of COL8A1 in the development of CNV in high myopia. Furthermore we conducted a meta-analysis of COL8A1, CFI and LIPC genes SNPs (rs669676, rs10033900 and rs10468017) and found that only rs669676 of these SNPs were associated with high myopia neovascularization.