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

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

MeSH terms

  • Aged
  • Apolipoproteins E / genetics
  • Choroid / blood supply
  • Choroid / pathology
  • Choroidal Neovascularization / complications
  • Choroidal Neovascularization / genetics*
  • Choroidal Neovascularization / pathology
  • Collagen Type VIII / genetics
  • Complement Factor I / genetics
  • Female
  • Humans
  • Lipase / genetics
  • Macular Degeneration / complications
  • Macular Degeneration / genetics*
  • Macular Degeneration / pathology
  • Male
  • Middle Aged
  • Myopia, Degenerative / complications
  • Myopia, Degenerative / genetics*
  • Myopia, Degenerative / pathology
  • Polymorphism, Single Nucleotide*
  • Retina / pathology


  • ApoE protein, human
  • Apolipoproteins E
  • Col8A1 protein, human
  • Collagen Type VIII
  • LIPC protein, human
  • Lipase
  • CFI protein, human
  • Complement Factor I

Grants and funding

This work has been developed by members of the Spanish Vitreoretinal society (SERV), the RETICs: RD07-0062: “Age Related Ocular Diseases, Quality of Life, and Vision’’, and RETICS OFTARED (RD12/0034) ‘‘Prevention, Early Detection, and Treatment of the Prevalent Degenerative and Chronic Ocular Pathology’’ from the Instituto de Salud Carlos III from the Ministerio de Economia y Competitividad, Spain. This work has been partly funded by the PN I + D + I 2008–2011; the ISCIII-Subdireccion General de Redes y Centros de Investigacion Cooperativa; and the European Program FEDER.