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Proc Natl Acad Sci U S A. 2018 Jun 12;115(24):6261-6266. doi: 10.1073/pnas.1802212115. Epub 2018 May 29.

CFH and VIPR2 as susceptibility loci in choroidal thickness and pachychoroid disease central serous chorioretinopathy.

Author information

1
Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, 6068507 Kyoto, Japan.
2
Center for Genomic Medicine, Kyoto University Graduate School of Medicine, 6068503 Kyoto, Japan.
3
Department of Ophthalmology, SMG-SNU Boramae Medical Center, Seoul National University College of Medicine, 07061 Seoul, Korea.
4
Department of Ophthalmology, Seoul National University Bundang Hospital, College of Medicine Kyeonggi, Seoul National University, 13620 Seoul, Korea.
5
Department of Surgery, Division of Ophthalmology, Kobe University Graduate School of Medicine, 6500017 Kobe, Japan.
6
Department of Ophthalmology, University of Yamanashi, 4008510 Yamanashi, Japan.
7
Department of Ophthalmology, Kagawa University, 7610793 Kagawa, Japan.
8
Department of Ophthalmology, Tokyo Womens' Medical University, 1628666 Tokyo, Japan.
9
Singapore National Eye Centre, Singapore Eye Research Institute, 168751 Singapore.
10
Division of Human Genetics, Genome Institute of Singapore, 138672 Singapore.
11
Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, 117549 Singapore.
12
Ophthalmology and Visual Sciences Academic Clinical Program, Duke-NUS Medical School, National University of Singapore, 169857 Singapore.
13
Department of Biochemistry and Molecular Biology, University of Ulsan College of Medicine, 138736 Seoul, Korea.
14
Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, 6068507 Kyoto, Japan; yamashro@kuhp.kyoto-u.ac.jp.
15
Department of Ophthalmology, Otsu Red-Cross Hospital, 5208511 Otsu, Japan.

Abstract

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 × 10-10 and 6.75 × 10-8, respectively). Case-control studies using patients with CSC confirmed associations between both polymorphisms and CSC (P = 5.27 × 10-5 and 5.14 × 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.

KEYWORDS:

CFH; GWAS; VIPR2; central serous chorioretinopathy; choroidal thickness

PMID:
29844195
PMCID:
PMC6004488
DOI:
10.1073/pnas.1802212115
[Indexed for MEDLINE]
Free PMC Article

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