ArticleNature genetics2014
Common variants near ABCA1 and in PMM2 are associated with primary open-angle glaucoma.
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Article in Nature genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 112 papers, 9 of them syntheses that pooled it.
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112citing papers in PubMed, 9 pooled it
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Who cites it
112 citing papers in PubMed, 9 syntheses or guidelines pooled it, 193 citations in OpenAlex.
- Association of Glaucoma Risk Genes with Retinal Nerve Fiber Layer in a Multi-ethnic Asian Population: The Singapore Epidemiology of Eye Diseases Study.Investigative ophthalmology & visual science · 2020Pooled it
- A comprehensive map of disease networks and molecular drug discoveries for glaucoma.Scientific reports · 2020Pooled it
- A multiethnic genome-wide association study of primary open-angle glaucoma identifies novel risk loci.Nature communications · 2018Pooled it
- Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma.Nature genetics · 2018Pooled it
- Lack of Association between Serum Vitamin B₆, Vitamin BNutrients · 2017Pooled it
- Association of WDR36 polymorphisms with primary open angle glaucoma: A systematic review and meta-analysis.Medicine · 2017Pooled it
- New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics.Human molecular genetics · 2017Pooled it
- Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma.Nature genetics · 2016Pooled it
- Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma.Nature genetics · 2016Pooled it
- Genome-wide association study of primary open-angle glaucoma in continental and admixed African populations.Human genetics · 2018Trial
- Association between triglyceride-glucose indices and incident glaucoma: integrated UK Biobank and Mendelian randomization study.Eye and vision (London, England) · 2026Article
- Transcending genome-wide association studies to create useful multi-omic views of glaucoma.Progress in retinal and eye research · 2026Review
- Integrative Multi-Omics Analysis Prioritizes Candidate Therapeutic Targets for Primary Open-Angle Glaucoma.International journal of molecular sciences · 2026Article
- Cross-Tissue Transcriptome-Wide Association Study and TWAS-FOCUS Fine-Mapping Reveal Novel Susceptibility Genes for Primary Open-Angle Glaucoma.Translational vision science & technology · 2026Article
- Variant-to-gene mapping identifiesbioRxiv : the preprint server for biology · 2026Article
- Exploring the role of VAV2 rare variants in primary open-angle glaucoma: genetic insights and pathophysiological mechanisms.Science China. Life sciences · 2026Article
- Single-cell RNA-seq reveals cell type-specific molecular and genetic associations with primary open-angle glaucoma.Signal transduction and targeted therapy · 2025Article
- Genetic Association of Primary Angle-Closure Glaucoma and Disease Progression.Clinical & experimental ophthalmology · 2025Article
- Retinoid X receptor agonist 9CDHRA mitigates retinal ganglion cell apoptosis and neuroinflammation in a mouse model of glaucoma.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2025Article
- Structural framework to address variant-gene relationship in primary open-angle glaucoma.Vision research · 2025Review
52 more citing papers are in PubMed but not listed here.
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Authors and funding
29 authors at 11 institutions in 2 countries.
Yuhong Chen1] Department of Ophthalmology and Visual Science, Eye and Ear Nose Throat (ENT) Hospital, Shanghai Medical School, Fudan University, Shanghai, China. [2].
Ying Lin1] Sichuan Provincial Key Laboratory for Human Disease Gene Study, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Chengdu, China. [2] School of Medicine, University of Electronic Science and Technology of China, Chengdu, China. [3].
Eranga N Vithana1] Singapore Eye Research Institute, Singapore National Eye Centre, Singapore. [2] Department of Ophthalmology, National University Health System and National University of Singapore, Singapore. [3].
Liyun Jia1] Beijing Ophthalmology and Visual Sciences Key Laboratory, Beijing Tongren Eye Centre, Beijing Tongren Hospital, Capital Medical University, Beijing, China. [2].
Xianbo ZuoChina Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, Hefei, China.
Tien Yin Wong1] Singapore Eye Research Institute, Singapore National Eye Centre, Singapore. [2] Department of Ophthalmology, National University Health System and National University of Singapore, Singapore.
Li Jia ChenDepartment of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China.
Xianjun Zhu1] Sichuan Provincial Key Laboratory for Human Disease Gene Study, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Chengdu, China. [2] School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Pancy O S TamDepartment of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China.
Bo Gong1] Sichuan Provincial Key Laboratory for Human Disease Gene Study, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Chengdu, China. [2] School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Shaohong QianDepartment of Ophthalmology and Visual Science, Eye and Ear Nose Throat (ENT) Hospital, Shanghai Medical School, Fudan University, Shanghai, China.
Zheng Li1] Singapore Eye Research Institute, Singapore National Eye Centre, Singapore. [2] Department of Ophthalmology, National University Health System and National University of Singapore, Singapore.
Xiaoqi Liu1] Sichuan Provincial Key Laboratory for Human Disease Gene Study, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Chengdu, China. [2] School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Baskaran Mani1] Singapore Eye Research Institute, Singapore National Eye Centre, Singapore. [2] Department of Ophthalmology, National University Health System and National University of Singapore, Singapore.
Qian LuoDepartment of Ophthalmology, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, Chengdu, China.
Celeste Guzman1] Singapore Eye Research Institute, Singapore National Eye Centre, Singapore. [2] Department of Ophthalmology, National University Health System and National University of Singapore, Singapore.
Christopher K S LeungDepartment of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China.
Xiaobo Li1] Sichuan Provincial Key Laboratory for Human Disease Gene Study, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Chengdu, China. [2] School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Wenjun CaoDepartment of Ophthalmology and Visual Science, Eye and Ear Nose Throat (ENT) Hospital, Shanghai Medical School, Fudan University, Shanghai, China.
Quanyao YangWest High School, Salt Lake City, Utah, USA.
Clement C Y ThamDepartment of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China.
Yilian ChengDepartment of Ophthalmology, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, Chengdu, China.
Xuejun ZhangChina Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, Hefei, China.
Ningli WangBeijing Ophthalmology and Visual Sciences Key Laboratory, Beijing Tongren Eye Centre, Beijing Tongren Hospital, Capital Medical University, Beijing, China.
Tin Aung1] Singapore Eye Research Institute, Singapore National Eye Centre, Singapore. [2] Department of Ophthalmology, National University Health System and National University of Singapore, Singapore.
Chiea Chuen Khor1] Singapore Eye Research Institute, Singapore National Eye Centre, Singapore. [2] Department of Ophthalmology, National University Health System and National University of Singapore, Singapore. [3] Human Genetics, Genome Institute of Singapore, Singapore. [4].
Chi Pui Pang1] Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China. [2].
Xinghuai Sun1] Department of Ophthalmology and Visual Science, Eye and Ear Nose Throat (ENT) Hospital, Shanghai Medical School, Fudan University, Shanghai, China. [2] State Key Laboratory of Medical Neurobiology, Institutes of Brain Science, Fudan University, Shanghai, China. [3] Myopia Key Laboratory of the Ministry of Health of China, Shanghai, China. [4].
Zhenglin Yang1] Sichuan Provincial Key Laboratory for Human Disease Gene Study, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Chengdu, China. [2] School of Medicine, University of Electronic Science and Technology of China, Chengdu, China. [3] Sichuan Translational Medicine Hospital, Chinese Academy of Sciences, Chengdu, China. [4].
University of Electronic Science and Technology of China · CNChinese University of Hong Kong · CNEye & ENT Hospital of Fudan University · CNSingapore Eye Research Institute · SGAnhui Medical University · CNSichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital · CNSingapore National Eye Center · SGBeijing Tongren Hospital · CNCapital Medical University · CNFudan University · CNNational University Health System · SG
Funding
No grant is acknowledged in the PubMed record.
Abstract
We performed a genome-wide association study for primary open-angle glaucoma (POAG) in 1,007 cases with high-pressure glaucoma (HPG) and 1,009 controls from southern China. We observed genome-wide significant association at multiple SNPs near ABCA1 at 9q31.1 (rs2487032; P = 1.66 × 10(-8)) and suggestive evidence of association in PMM2 at 16p13.2 (rs3785176; P = 3.18 × 10(-6)). We replicated these findings in a set of 525 HPG cases and 912 controls from Singapore and a further set of 1,374 POAG cases and 4,053 controls from China. We observed genome-wide significant association with more than one SNP at the two loci (P = 2.79 × 10(-19) for rs2487032 representing ABCA1 and P = 5.77 × 10(-10) for rs3785176 representing PMM2). Both ABCA1 and PMM2 are expressed in the trabecular meshwork, optic nerve and other ocular tissues. In addition, ABCA1 is highly expressed in the ganglion cell layer of the retina, a finding consistent with it having a role in the development of glaucoma.
Indexed as
Polymorphism, Single NucleotideAdolescentAdultAgedAged, 80 and overAsian PeopleATP Binding Cassette Transporter 1ChinaChromosomes, Human, Pair 16Chromosomes, Human, Pair 9FemaleGene ExpressionGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeGlaucoma, Open-AngleABCA1 protein, humanATP Binding Cassette Transporter 1phosphomannomutase 2, humanPhosphotransferases (Phosphomutases)
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