ArticleNature genetics2016
A missense variant in FGD6 confers increased risk of polypoidal choroidal vasculopathy.
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Article in Nature genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers, 1 of them a synthesis that pooled it.
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45citing papers in PubMed, 1 pooled it
8.5field-weighted citation impact, top 2% of its field
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Who cites it
45 citing papers in PubMed, 1 synthesis or guideline pooled it, 79 citations in OpenAlex.
- Systematic review and meta-analysis of mass spectrometry proteomics applied to ocular fluids to assess potential biomarkers of age-related macular degeneration.BMC ophthalmology · 2023Pooled it
- Genetic factors associated with response to as-needed aflibercept therapy for typical neovascular age-related macular degeneration and polypoidal choroidal vasculopathy.Scientific reports · 2020Trial
- Association of coding and UTR variants in the known regions with wet age-related macular degeneration in Han Chinese population.Journal of human genetics · 2018Trial
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- Real-World Outcomes of Faricimab for Polypoidal Choroidal Vasculopathy in a Multi-ethnic Cohort: A 12-Month Retrospective Study.Ophthalmology and therapy · 2026Article
- Cell-type-specific architecture of the hypothalamus in a socially plastic vertebrate.bioRxiv : the preprint server for biology · 2026Article
- TheOphthalmology science · 2026Article
- Gene therapy for age-related macular degeneration: a promising frontier in vision preservation.Cell communication and signaling : CCS · 2025Review
- OR11H1 Missense Variant Confers the Susceptibility to Vogt-Koyanagi-Harada Disease by Mediating Gadd45g Expression.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2024Article
- Recent Developments in Gene Therapy for Neovascular Age-Related Macular Degeneration: A Review.Biomedicines · 2023Review
- Dynamic human retinal pigment epithelium (RPE) and choroid architecture based on single-cell transcriptomic landscape analysis.Genes & diseases · 2023Article
- Whole Genome Sequencing Identifies Novel Common and Low-Frequency Variants Associated With Age-Related Macular Degeneration.Investigative ophthalmology & visual science · 2023Article
- Contribution of common and rare variants to Asian neovascular age-related macular degeneration subtypes.Nature communications · 2023Article
- Mechanistic Insight into Age-Related Macular Degeneration (AMD): Anatomy, Epidemiology, Genetics, Pathogenesis, Prevention, Implications, and Treatment Strategies to Pace AMD Management.Chonnam medical journal · 2023Review
- Association of HERPUD1 genetic variant rs2217332 with age-related macular degeneration and polypoidal choroidal vasculopathy in an Indian cohort.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2023Article
- Deep Sc-RNA sequencing decoding the molecular dynamic architecture of the human retina.Science China. Life sciences · 2023Article
- Genetic Regulation of SMC Gene Expression and Splicing Predict Causal CAD Genes.Circulation research · 2023Article
- Profile of Dr. Zhenglin Yang.Science China. Life sciences · 2023Article
- Rethinking the potential and necessity of drug delivery systems in neovascular age-related macular degeneration therapy.Frontiers in bioengineering and biotechnology · 2023Review
- The schizophrenia-associated missense variant rs13107325 regulates dendritic spine density.Translational psychiatry · 2022Article
Corrections and comments
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Authors and funding
54 authors at 13 institutions in 5 countries.
Lulin HuangKey Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Houbin ZhangKey Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Ching-Yu ChengSingapore Eye Research Institute, Singapore National Eye Centre, Singapore.
Feng WenState Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.
Pancy O S TamState Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.
Peiquan ZhaoDepartment of Ophthalmology, Xinhua Hospital, Shanghai Jiaotong University, Shanghai, China.
Haoyu ChenJoint Shantou International Eye Center, Shantou University and Chinese University of Hong Kong, Shantou, China.ORCID 0000-0003-0676-4610
Zheng LiSingapore Eye Research Institute, Singapore National Eye Centre, Singapore.ORCID 0000-0002-7060-2213
Lijia ChenDepartment of Ophthalmology and Visual Sciences, Chinese University of Hong Kong, Hong Kong, China.
Zhengfu TaiKey Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Kenji YamashiroDepartment of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan.ORCID 0000-0001-9354-8558
Shaoping DengKey Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Xianjun ZhuKey Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Weiqi ChenJoint Shantou International Eye Center, Shantou University and Chinese University of Hong Kong, Shantou, China.
Li CaiKey Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Fang LuKey Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Yuanfeng LiKey Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Chui-Ming G CheungSingapore Eye Research Institute, Singapore National Eye Centre, Singapore.ORCID 0000-0003-3358-3516
Yi ShiKey Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Masahiro MiyakeDepartment of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Yin LinKey Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Bo GongKey Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Xiaoqi LiuKey Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Kar-Seng SimSingapore Eye Research Institute, Singapore National Eye Centre, Singapore.ORCID 0000-0002-3822-7759
Jiyun YangKey Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Keisuke MoriDepartment of Ophthalmology, Saitama Medical University, Iruma, Japan.
Xiongzhe ZhangState Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.
Peter D CackettSingapore Eye Research Institute, Singapore National Eye Centre, Singapore.
Motokazu TsujikawaDepartment of Ophthalmology, Osaka University Medical School, Osaka, Japan.
Kohji NishidaDepartment of Ophthalmology, Osaka University Medical School, Osaka, Japan.
Fang HaoKey Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Shi MaKey Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
He LinKey Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Jing ChengKey Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Ping FeiDepartment of Ophthalmology, Xinhua Hospital, Shanghai Jiaotong University, Shanghai, China.
Timothy Y Y LaiDepartment of Ophthalmology and Visual Sciences, Chinese University of Hong Kong, Hong Kong, China.
Sibo TangState Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.
Augustinus LaudeNational Health care Group Eye Institute, Tan Tock Seng Hospital, Singapore.
Satoshi InoueDivision of Gene Regulation and Signal Transduction, Research Center for Genomic Medicine, Saitama Medical University, Saitama, Japan.
Ian Y YeoSingapore Eye Research Institute, Singapore National Eye Centre, Singapore.
Yoichi SakuradaDepartment of Surgery, Division of Ophthalmology, Kobe University Graduate School of Medicine, Kobe, Japan.
Yu ZhouKey Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Hiroyuki IijimaDepartment of Ophthalmology, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan.
Shigeru HondaDepartment of Surgery, Division of Ophthalmology, Kobe University Graduate School of Medicine, Kobe, Japan.
Chuntao LeiDepartment of Ophthalmology, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, Chengdu, China.
Lin ZhangKey Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Hong ZhengKey Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Dan JiangKey Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Xiong ZhuKey Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Tien-Ying WongSingapore Eye Research Institute, Singapore National Eye Centre, Singapore.
Chiea-Chuen KhorSingapore Eye Research Institute, Singapore National Eye Centre, Singapore.
Chi-Pui PangDepartment of Ophthalmology and Visual Sciences, Chinese University of Hong Kong, Hong Kong, China.
Nagahisa YoshimuraDepartment of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Zhenglin YangKey Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
University of Electronic Science and Technology of China · CNChinese University of Hong Kong · HKNational University of Singapore · SGSun Yat-sen University · CNKyoto University · JPKobe University · JPSaitama Medical University · JPThe University of Osaka · JPXinHua Hospital · CNSichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital · CNSingapore National Eye Center · SGTan Tock Seng Hospital · SGUniversity of Yamanashi · JP
Funding
No grant is acknowledged in the PubMed record.
Abstract
Polypoidal choroidal vasculopathy (PCV), a subtype of 'wet' age-related macular degeneration (AMD), constitutes up to 55% of cases of wet AMD in Asian patients. In contrast to the choroidal neovascularization (CNV) subtype, the genetic risk factors for PCV are relatively unknown. Exome sequencing analysis of a Han Chinese cohort followed by replication in four independent cohorts identified a rare c.986A>G (p.Lys329Arg) variant in the FGD6 gene as significantly associated with PCV (P = 2.19 × 10(-16), odds ratio (OR) = 2.12) but not with CNV (P = 0.26, OR = 1.13). The intracellular localization of FGD6-Arg329 is distinct from that of FGD6-Lys329. In vitro, FGD6 could regulate proangiogenic activity, and oxidized phospholipids increased expression of FGD6. FGD6-Arg329 promoted more abnormal vessel development in the mouse retina than FGD6-Lys329. Collectively, our data suggest that oxidized phospholipids and FGD6-Arg329 might act synergistically to increase susceptibility to PCV.
Indexed as
Mutation, MissenseCells, CulturedChinaCohort StudiesEndothelium, VascularEthnicityGene Expression ProfilingGuanine Nucleotide Exchange FactorsHumansPolymorphism, Single NucleotideSubcellular FractionsWet Macular DegenerationFGD6 protein, humanGuanine Nucleotide Exchange Factors
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