Purpose We have previously documented that neovascular age-related macular degeneration (nAMD) and Polypoidal choroidal vasculopathy (PCV) have multiple different clinical and genetic characteristics. In this study, we investigated the association of alpha-2 type I collagen (COL1A2), an important identified risk variant for intracranial aneurysm, with nAMD and PCV in a Chinese Han population.

Methods  The study recruited prospectively 195 patients with PCV, 136 patients with nAMD, and 181 control individuals. We genotyped the rs42524 polymorphism of COL1A2 using the Multiplex SNaPshot system as well as direct DNA sequencing. Genotypes and allele frequencies were evaluated with the PLINK software.

Results The rs42524 polymorphism was significantly associated with nAMD [minor allele: G, P(allelic)=0.04253, OR=0.5285(95%CI: 0.2832-0.9866)], but not with PCV[minor allele: G, P(allelic)=0.4164, OR=1.2110(95%CI: 0.7631-1.9210)]. The P-values for the additive model were statistically significant for nAMD but were not significant under dominant or recessive models. None of the models for PCV were statistically significant. The size of our sample cohort resulted in a post hoc power of more than 80% to detect associations of rs42524 with nAMD and PCV.

Conclusions The rs42524 polymorphism is a risk allele for nAMD in a Chinese Han population. COL1A2 plays different roles in susceptibility to nAMD and PCV.