title: Evaluation of 10 AMD Associated Polymorphisms as a Cause of Choroidal Neovascularization in Highly Myopic Eyes.
abstract: 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.
authors.affiliation: Ophthalmology Experimental Laboratory, Universidad de Navarra, Pamplona, Spain.|Department of Ophthalmology, Clínica Universidad de Navarra, Pamplona, Spain.
authors.forename: Alvaro
authors.identifier: http://orcid.org/0000-0002-9990-9526
authors.initials: A
authors.lastname: Velazquez-Villoria
authors.affiliation: Ophthalmology Experimental Laboratory, Universidad de Navarra, Pamplona, Spain.
authors.forename: Sergio
authors.initials: S
authors.lastname: Recalde
authors.affiliation: Department of Celular and Molecular Medicine, Centro de Investigaciones Biológicas and Ciber de Enfermedades Raras, Madrid, Spain.
authors.forename: Jaouad
authors.initials: J
authors.lastname: Anter
authors.affiliation: Ophthalmology Experimental Laboratory, Universidad de Navarra, Pamplona, Spain.
authors.forename: Jaione
authors.initials: J
authors.lastname: Bezunartea
authors.affiliation: Ophthalmology Experimental Laboratory, Universidad de Navarra, Pamplona, Spain.
authors.forename: Maria
authors.initials: M
authors.lastname: Hernandez-Sanchez
authors.affiliation: Ophthalmology Experimental Laboratory, Universidad de Navarra, Pamplona, Spain.
authors.forename: Laura
authors.initials: L
authors.lastname: García-García
authors.affiliation: Ophthalmology Experimental Laboratory, Universidad de Navarra, Pamplona, Spain.|Department of Ophthalmology, Clínica Universidad de Navarra, Pamplona, Spain.
authors.forename: Elena
authors.initials: E
authors.lastname: Alonso
authors.affiliation: Department of Ophthalmology, Castilla La Mancha University, Albacete and Baviera European Institute of Retina, Alicante, Spain.
authors.forename: Jose María
authors.initials: JM
authors.lastname: Ruiz-Moreno
authors.affiliation: University of the Basque Country (Surgical-Clinical Institute of Ophthalmology) and San Eloy Hospital, Bilbao, Spain.
authors.forename: Javier
authors.initials: J
authors.lastname: Araiz-Iribarren
authors.affiliation: Ophthalmology Experimental Laboratory, Universidad de Navarra, Pamplona, Spain.
authors.forename: Patricia
authors.initials: P
authors.lastname: Fernandez-Robredo
authors.affiliation: Ophthalmology Experimental Laboratory, Universidad de Navarra, Pamplona, Spain.|Department of Ophthalmology, Clínica Universidad de Navarra, Pamplona, Spain.
authors.forename: Alfredo
authors.initials: A
authors.lastname: García-Layana
mesh_terms: D000368:Aged; D001057:Apolipoproteins E / Q000235:genetics; D002829:Choroid / Q000098:blood supply / Q000473:pathology; D020256:Choroidal Neovascularization / Q000150:complications / Q000235:genetics* / Q000473:pathology; D024102:Collagen Type VIII / Q000235:genetics; D017244:Complement Factor I / Q000235:genetics; D005260:Female; D006801:Humans; D008049:Lipase / Q000235:genetics; D008268:Macular Degeneration / Q000150:complications / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D047728:Myopia, Degenerative / Q000150:complications / Q000235:genetics* / Q000473:pathology; D020641:Polymorphism, Single Nucleotide; D012160:Retina / Q000473:pathology
chemical_list: C000612345:ApoE protein, human; D001057:Apolipoproteins E; C000621857:Col8A1 protein, human; D024102:Collagen Type VIII; C504173:LIPC protein, human; D008049:Lipase; C493611:CFI protein, human; D017244:Complement Factor I