期刊
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
卷 115, 期 24, 页码 6261-6266出版社
NATL ACAD SCIENCES
DOI: 10.1073/pnas.1802212115
关键词
GWAS; choroidal thickness; CFH; VIPR2; central serous chorioretinopathy
资金
- Kyoto University
- Ministry of Education, Culture, Sports, Science & Technology in Japan
- Center of Innovation Program from Japan Science and Technology Agency
- Global University Project from Japan Science and Technology Agency
- Practical Research Project for Rare/Intractable Diseases from Japan Agency for Medical Research and Development
- Comprehensive Research on Aging and Health Science Research Grants for Dementia R&D from Japan Agency for Medical Research and Development
- Takeda Science Foundation
Central serous chorioretinopathy (CSC) is a common disease affecting younger people and may lead to vision loss. CSC shares phenotypic overlap with age-related macular degeneration (AMD). As recent studies have revealed a characteristic increase of choroidal thickness in CSC, we conducted a genome-wide association study on choroidal thickness in 3,418 individuals followed by TaqMan assays in 2,692 subjects, and we identified two susceptibility loci: CFH rs800292, an established AMD susceptibility polymorphism, and VIPR2 rs3793217 (P = 2.05 x 10(-10) and 6.75 x 10(-8), respectively). Case-control studies using patients with CSC confirmed associations between both polymorphisms and CSC (P = 5.27 x 10(-5) and 5.14 x 10(-5), respectively). The CFH rs800292 G allele is reportedly a risk allele for AMD, whereas the A allele conferred risk for thicker choroid and CSC development. This study not only shows that susceptibility genes for CSC could be discovered using choroidal thickness as a defining variable but also, deepens the understanding of differences between CSC and AMD pathophysiology.
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