Scientific publications

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

Velazquez-Villoria A (1,2), Recalde S (1), Anter J (3), Bezunartea J (1), Hernandez-Sanchez M (1), García-García L (1), Alonso  E (1,2), Ruiz-Moreno JM (4), Araiz-Iribarren J (5), Fernandez-Robredo P (1), García-Layana A (1,2).
(1) Ophthalmology Experimental Laboratory, Universidad de Navarra, Pamplona, Spain.
(2) Department of Ophthalmology, Clínica Universidad de Navarra, Pamplona, Spain.
(3) Department of Celular and Molecular Medicine, Centro de Investigaciones Biológicas and Ciber de Enfermedades Raras, Madrid, Spain.
(4) Department of Ophthalmology, Castilla La Mancha University, Albacete and Baviera European Institute of Retina, Alicante, Spain.
(5) University of the Basque Country (Surgical-Clinical Institute of Ophthalmology) and San Eloy Hospital, Bilbao, Spain. 

Magazine: PLoS One

Date: Sep 19, 2016



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.

CITATION  PLoS One. 2016 Sep 19;11(9):e0162296. doi: 10.1371/journal.pone.0162296.



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