Identification of genetic determinants associated with myopic choroidal neovascularization
| Project/Area Number |
16K20315
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Ophthalmology
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| Research Institution | Kyoto University |
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Principal Investigator |
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| Project Period (FY) |
2016-04-01 – 2018-03-31
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| Project Status |
Completed (Fiscal Year 2017)
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| Budget Amount *help |
¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
Fiscal Year 2017: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2016: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
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| Keywords | 近視性脈絡膜新生血管 / 強度近視 / 脈絡膜 / 遺伝子多型 / 全ゲノム関連解析 |
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| Outline of Final Research Achievements |
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).
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Report
(3 results)
Research Products
(3 results)
