Purpose: To investigate a potential association between VEGF gene polymorphisms and the occurrence and/or the size of choroidal neovascularization (CNV) in highly myopic eyes.
Methods: In the case-control study for CNV occurrence, 327 highly myopic Japanese patients were enrolled. One hundred and eighty-four patients had CNV in at least one eye, and 143 did not have CNV in either eye. Of the 184 patients with CNV, 83 patients were used to evaluate an association with CNV size, and an additional 76 patients with CNV were used to confirm the association. We genotyped four tag single nucleotide polymorphisms (SNPs) and four functional SNPs previously reported to be correlated with VEGF gene expression to evaluate the associations of these eight SNPs with CNV occurrence and size. To confirm the association between CNV size and VEGF gene polymorphism, the associated SNP was genotyped in 76 additional patients with myopic CNV.
Results: There was no significant association between the occurrence of myopic CNV and the SNPs in the VEGF gene (P > 0.16). Of the eight SNPs evaluated, however, rs2010963 showed significant association with CNV area (P = 0.0047). This association was successfully replicated in the additional 76 eyes with myopic CNV, and pooled analysis revealed significant association of rs2010963 with CNV size (P = 0.00078).
Conclusions: VEGF gene polymorphisms were not associated with CNV occurrence in highly myopic eyes but were significantly associated with the size of CNV, suggesting roles in the growth rather than the emergence of CNV.