Identification of the ANGPT2 Gene as a New Genetic Biomarker for Age-Related Macular Degeneration and Polypoidal Choroidal Vasculopathy

Objective : The angiopoietin-2 is recently found to be involved in angiogenesis in animal models. This study is to determine whether the ANGPT2 gene is associated with neovascular age-related macular degeneration (nAMD) and polypoidal choroidal vasculopathy (PCV). Methods : A total of 32 haplotype-tagging single-nucleotide polymorphisms (SNPs) in ANGPT2 were analyzed in totally 2343 subjects from 3 study cohorts: two Chinese cohorts from Hong Kong and Shantou, and one Japanese cohort from Osaka. Results : In the Hong Kong cohort, SNPs rs4455855 and rs13269021 were significantly associated with both nAMD and PCV. The same trends were found in the Shantou and Osaka cohorts. The meta-analysis showed that these two SNPs were strongly associated with nAMD (rs4455855: P=0.001; OR=1.31; rs13269021: P=0.0007; OR=1.31) and PCV (rs4455855: P=0.001; OR=1.30; rs13269021: P=0.001; OR=1.30). Conclusion : Our study revealed ANGPT2 as a new genetic biomarker for nAMD and PCV in Chinese and Japanese.