Research Project
Grant-in-Aid for Young Scientists (B)
Myopic choroidal neovascularization (mCNV) is one of the vision-threatening complications in eyes with high myopia.We performed copy number variation-based genome-wide association study (GWAS) to identify genetic determinants associated with development of mCNV. The GWAS suggested possible associations of seven genetic loci including EPHA3 and HCN1 genes with mCNV (P <0.05).We also performed two-stage single nucleotide polymorphism-based GWAS to identify genetic determinants associated with myopic maculopathy, which includes mCNV and myopic chorioretinal atrophy. The GWAS identifies a susceptibility locus at rs11873439 in an intron of CCDC102B (P = 1.77×10-12). We further conducted replication analysis on the association between CCDC102B rs11873439 and myopic maculopathy development using high myopia samples. The fixed effect meta-analysis revealed strong association between rs11873439 and myopic maculopathy development (P = 2.40×10-6).
All 2019 2018 2017
All Journal Article (1 results) (of which Int'l Joint Research: 1 results, Peer Reviewed: 1 results, Open Access: 1 results) Presentation (2 results)
Nature Communications
Volume: 印刷中
120006466615
