2014 Fiscal Year Final Research Report
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 |
Research Field |
Ophthalmology
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Research Institution | Saitama Medical University |
Principal Investigator |
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Project Period (FY) |
2013-04-01 – 2015-03-31
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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 |
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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Free Research Field |
眼科 遺伝学
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