ArticleNature communications2017
Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy.
Open access · goldAbstract read
In one paragraph
Article in Nature communications, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 85 papers, 5 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
85citing papers in PubMed, 5 pooled it
12.8field-weighted citation impact, top 1% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
85 citing papers in PubMed, 5 syntheses or guidelines pooled it, 155 citations in OpenAlex.
- Genome-Wide Association Study of Corneal Dystrophy Uncovers Novel Risk Loci and Enables Improved Polygenic Prediction of Fuchs Endothelial Corneal Dystrophy.Investigative ophthalmology & visual science · 2026Pooled it
- A multi-ancestry GWAS of Fuchs corneal dystrophy highlights the contributions of laminins, collagen, and endothelial cell regulation.Communications biology · 2024Pooled it
- Systematic review of SLC4A11, ZEB1, LOXHD1, and AGBL1 variants in the development of Fuchs' endothelial corneal dystrophy.Frontiers in medicine · 2023Pooled it
- Transcriptomic meta-analysis reveals ERRα-mediated oxidative phosphorylation is downregulated in Fuchs' endothelial corneal dystrophy.PloS one · 2023Pooled it
- A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus.Communications biology · 2021Pooled it
- A Human Pharmacogenomics Approach Provides Insight Into the Pathogenesis and Pathophysiology of Steroid-Induced Ocular Hypertension.Ophthalmology science · 2026Article
- Metabolic and redox adaptations of the corneal endothelium: From metabolic plasticity to therapeutic opportunities.Redox biology · 2026Review
- Genome-wide discovery reveals 30 loci for choroidal thickness and uncovers potential causal links with angle-closure glaucoma.medRxiv : the preprint server for health sciences · 2026Article
- Review
- Genome-wide association study of corneal dystrophy uncovers novel risk loci and enables improved polygenic prediction of Fuchs endothelial corneal dystrophy.medRxiv : the preprint server for health sciences · 2026Article
- Predictors of Health Care Disparities in Fuchs Dystrophy Treatment Using the IRIS Registry.Cornea · 2026Article
- Transcriptome analyses of human corneal endothelial cell lines derived from patients with Fuchs endothelial corneal dystrophy.Scientific reports · 2025Article
- Molecular Studies ofInternational journal of molecular sciences · 2025Article
- Transcription factor 4 maintains endothelial cell identity by inhibiting endothelial to mesenchymal transition.Nucleic acids research · 2025Article
- Review
- Repeat Expansion and Somatic Instability in TCF4 in Patients With Fuchs Endothelial Corneal Dystrophy Identified by Small Pool PCR.Investigative ophthalmology & visual science · 2025Article
- TGF-β Promotes Endothelial-to-Mesenchymal Transition and Alters Corneal Endothelial Cell Migration in Fuchs Endothelial Corneal Dystrophy.International journal of molecular sciences · 2025Article
- Genome-wide association study of Fuchs' endothelial corneal dystrophy in the German population.Human genetics · 2025Article
- Characterisation of the role played by ELMO1, GPR141 and the intergenic polymorphism rs918980 in Fuchs' dystrophy in the Indian population.FEBS open bio · 2025Article
- From Genes to Disease: ReassessingInternational journal of molecular sciences · 2025Article
25 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
36 authors at 18 institutions in 2 countries.
Natalie A AfshariShiley Eye Institute, University of California, La Jolla, California 92093, USA.
Robert P IgoDepartment of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio 44106, USA.
Nathan J MorrisDepartment of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio 44106, USA.
Dwight StambolianDepartment of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.
Shiwani SharmaDepartment of Ophthalmology, Flinders Medical Centre, Flinders University, Adelaide, South Australia 5042, Australia.
V Lakshmi PulagamDepartment of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio 44106, USA.
Steven DunnMichigan Cornea Consultants, PC, Southfield, Michigan 48034, USA.
John F StamlerDepartment of Ophthalmology, University of Iowa, College of Medicine, Iowa City, Iowa 52242, USA.
Barbara J TruittDepartment of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio 44106, USA.
Jacqueline RimmlerDuke Molecular Physiology Institute, Duke University Medical Center, Durham, North Carolina 27701, USA.
Abraham KuotDepartment of Ophthalmology, Flinders Medical Centre, Flinders University, Adelaide, South Australia 5042, Australia.
Christopher R CroasdaleDavis Duehr Dean Clinic, Madison, Wisconsin 53715, USA.
Xuejun QinDuke Molecular Physiology Institute, Duke University Medical Center, Durham, North Carolina 27701, USA.
Kathryn P BurdonDepartment of Ophthalmology, Flinders Medical Centre, Flinders University, Adelaide, South Australia 5042, Australia.ORCID 0000-0001-8217-1249
S Amer RiazuddinThe Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA.
Richard MillsDepartment of Ophthalmology, Flinders Medical Centre, Flinders University, Adelaide, South Australia 5042, Australia.
Sonja KlebeDepartment of Ophthalmology, Flinders Medical Centre, Flinders University, Adelaide, South Australia 5042, Australia.
Mollie A MinearDuke Molecular Physiology Institute, Duke University Medical Center, Durham, North Carolina 27701, USA.
Jiagang ZhaoShiley Eye Institute, University of California, La Jolla, California 92093, USA.
Elmer BalajondaDuke University Eye Center, Duke University Medical Center, Durham, North Carolina 27710, USA.
George O RosenwasserCentral Pennsylvania Eye Institute, Hershey, Pennsylvania 17033, USA.
Keith H BaratzDepartment of Ophthalmology, Mayo Clinic, Rochester, Minnesota 55905, USA.
V Vinod MoothaDepartment of Ophthalmology, University of Texas Southwestern Medical Center, Dallas, Texas 75235, USA.
Sanjay V PatelDepartment of Ophthalmology, Mayo Clinic, Rochester, Minnesota 55905, USA.ORCID 0000-0001-6694-1530
Simon G GregoryDuke Molecular Physiology Institute, Duke University Medical Center, Durham, North Carolina 27701, USA.
Joan E Bailey-WilsonComputational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health and Johns Hopkins University, Baltimore, Maryland 21224, USA.ORCID 0000-0002-9153-2920
Marianne O PricePrice Vision Group, Indianapolis, Indiana 46260, USA.
Francis W PricePrice Vision Group, Indianapolis, Indiana 46260, USA.
Jamie E CraigDepartment of Ophthalmology, Flinders Medical Centre, Flinders University, Adelaide, South Australia 5042, Australia.
John H FingertDepartment of Ophthalmology, University of Iowa, College of Medicine, Iowa City, Iowa 52242, USA.
John D GottschThe Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA.
Anthony J AldaveStein Eye Institute, University of California, Los Angeles, California 90095, USA.
Gordon K KlintworthDuke University Eye Center, Duke University Medical Center, Durham, North Carolina 27710, USA.
Jonathan H LassDepartment of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio 44106, USA.
Yi-Ju LiDuke Molecular Physiology Institute, Duke University Medical Center, Durham, North Carolina 27701, USA.
Sudha K IyengarDepartment of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio 44106, USA.
Flinders University · AUCase Western Reserve University · USDuke Medical Center · USDuke University · USJohns Hopkins University · USMayo Clinic · USPrice Vision Group · USSmith-Kettlewell Eye Research Institute · USUniversity Hospitals of Cleveland · USUniversity of Iowa · USChicago Cornea Consultants (United States) · USHershey (United States) · USNational Institutes of Health · USThe University of Texas Southwestern Medical Center · USUniversity of California, Los Angeles · USUniversity of Pennsylvania · USUniversity of Tasmania · AUUW Health University Hospital · US
Funding
CTSA INFRASTRUCTURE FOR PEDIATRIC RESEARCHUL1RR024989 · NCRR · CASE WESTERN RESERVE UNIVERSITY · PI DAVIS, PAMELA B · 2007 to 2011
$53.7MClinical and Translational Science Collaborative of ClevelandUL1TR000439 · NCATS · CASE WESTERN RESERVE UNIVERSITY · PI KONSTAN, MICHAEL W. · 2012 to 2016
$50.0MTISSUE CULTURE AND HYBRIDOMA MODULEP30EY011373 · NEI · CASE WESTERN RESERVE UNIVERSITY · PI Irina A Pikuleva · 1997 to 2026
$17.7MGenetic Epidemiology of Complex TraitsZIAHG200327 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI BAILEY-WILSON, JOAN ELLEN · 2009 to 2022
$10.5MVision BiostatisticsP30EY022589 · NEI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI Derek Stuart Welsbie · 2012 to 2026
$10.3MGenetics of Fuchs Corneal DystrophyR01EY016835 · NEI · JOHNS HOPKINS UNIVERSITY · PI GOTTSCH, JOHN D · 2007 to 2017
$5.7MA Multi-Center Study To Map Genes for Fuchs'DystrophyR01EY016482 · NEI · CASE WESTERN RESERVE UNIVERSITY · PI IYENGAR, SUDHA K · 2005 to 2009
$3.8MStudy of Genetic Basis of Fuchs Corneal DystrophyR01EY016514 · NEI · DUKE UNIVERSITY · PI KLINTWORTH, GORDON KENNETH · 2007 to 2011
$3.1MIdentification and Characterization of the Genetic Basis of PPCDR01EY022082 · NEI · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI ALDAVE, ANTHONY JOHN · 2013 to 2017
$1.9MIntegrative Genetic Analyses in Fuchs Endothelial Corneal DystrophyR01EY023196 · NEI · CASE WESTERN RESERVE UNIVERSITY · PI AFSHARI, NATALIE ADEL, IYENGAR, SUDHA K · 2013 to 2015
$1.2MCWRU Clinical Vision Research InitiativeR21EY015145 · NEI · CASE WESTERN RESERVE UNIVERSITY · PI LASS, JONATHAN H · 2004 to 2008
$750kNCATS NIH HHS UL1 TR000439NEI NIH HHS P30 EY011373NEI NIH HHS P30 EY022589NEI NIH HHS R01 EY016482NEI NIH HHS R01 EY016514NEI NIH HHS R01 EY016835NEI NIH HHS R01 EY022082NEI NIH HHS R01 EY023196NEI NIH HHS R21 EY015145
Abstract
The structure of the cornea is vital to its transparency, and dystrophies that disrupt corneal organization are highly heritable. To understand the genetic aetiology of Fuchs endothelial corneal dystrophy (FECD), the most prevalent corneal disorder requiring transplantation, we conducted a genome-wide association study (GWAS) on 1,404 FECD cases and 2,564 controls of European ancestry, followed by replication and meta-analysis, for a total of 2,075 cases and 3,342 controls. We identify three novel loci meeting genome-wide significance (P<5 × 10
Indexed as
Genetic LociGenome-Wide Association StudyFuchs' Endothelial DystrophyHumansReproducibility of ResultsRisk FactorsROC Curve
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY
Read underepoch 390
Registered trials
None linked
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.