genetic analysis with retinal angiomatous proliferation
| Project/Area Number |
25861647
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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 | Saitama Medical University |
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Principal Investigator |
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| Project Period (FY) |
2013-04-01 – 2015-03-31
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| Project Status |
Completed (Fiscal Year 2014)
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| Budget Amount *help |
¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2014: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
Fiscal Year 2013: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
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| Keywords | 網膜血管腫様増殖 / 加齢黄斑変性 / 遺伝子多型 / HTRA1 / CFH I62V / ドルーゼン / 疾患感受性遺伝子 / 次世代シーケンス解析 |
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| Outline of Final Research Achievements |
Complement factor H (CFH) and high-temperature requirement A-1 (HTRA1) have been demonstrated as major age-related macular degeneration (AMD) susceptibility genes.
We analyzed whether pathological single nucleotide polymorphisms (SNPs) in the vicinity of the 2 genes associates with prototypic clinical phenotypes that are often observed among retinal angiomatous proliferation (RAP) patients. The HTRA1 promoter SNP (rs11200638) was associated with all 3 subtypes. The association was strongest with RAP(P<0.05). In terms of CFH I62V variant, no significant difference was observed among 3 subtypes(P>0.05). Among RAP subgroup, HTRA1 polymorphism significantly associated with CSD and RPD (P<0.01), while CFH I62V mildly associated only with RPD (P<0.05).Both HTRA1 promoter and CFH I62V risk alleles as well as RPD could be susceptibility factors for RAP among Japanese population.
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Report
(3 results)
Research Products
(8 results)
