| Project/Area Number |
26861446
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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 |
NAKANISHI Hideo 京都大学, 医学(系)研究科(研究院), 助教 (80724278)
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| Project Period (FY) |
2014-04-01 – 2016-03-31
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| Project Status |
Completed (Fiscal Year 2015)
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| Budget Amount *help |
¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
Fiscal Year 2015: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2014: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
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| Keywords | 中心性漿液性脈絡網膜症 / 全ゲノム関連解析 / 脈絡膜厚 / 一塩基多型 / ゲノムワイド関連解析 / 量的形質遺伝子座解析 |
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| Outline of Final Research Achievements |
Central serous chorioretinopathy (CSCR) is characterized by serous detachment of central retina and diffusely thickened choroid, which can be complicated by age-related macular degeneration (AMD).
We performed genome-wide association study (GWAS) to identify genetic determinants associated with CSCR (250 cases/2,908 controls in the first stage and 143 cases/1,656 controls in the second stage). The first stage GWAS showed possible associations between single nucleotide polymorphisms (SNPs) nearby VPS11 gene at chromosome 11 and development of CSCR (P = 1.1x10-8); however, the associations were not replicated in the second stage (P = 0.13). We also performed quantitative trait locus (QTL) analysis using subfoveal choroidal thickness of 646 AMD cases. The QTL analysis suggested an association between ARMS2/HTRA1 gene locus and subfoveal choroidal thickness (P <5.0×10-8). The AMD subgroup with thickened choroid as CSCR showed lower genetic susceptibility to AMD than that of typical AMD.
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