Evidence map›Paper›PMID 25241763›Full record

SynthesisNature communications2014

Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.

Henriët Springelkamp, René Höhn, Aniket Mishra, Pirro G Hysi, Chiea-Chuen Khor, Stephanie J Loomis, Jessica N Cooke Bailey, Jane Gibson, Gudmar Thorleifsson, Sarah F Janssen and 71 more

Open access · hybridAbstract readMeta-Analysis
In one paragraph

Synthesis in Nature communications, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
49citing papers in PubMed, 4 pooled it
11.7field-weighted citation impact, top 1% of its field
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

49 citing papers in PubMed, 4 syntheses or guidelines pooled it, 107 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Pooled it
  5. Article
  6. Article
  7. Article
  8. SH-SY5Y human neuronal cells with mutations of theBiochemistry and biophysics reports · 2024
    Article
  9. Review
  10. Article
  11. 10 Years of GWAS in intraocular pressure.Frontiers in genetics · 2023
    Review
  12. Article
  13. Optic neuropathy associated with TGFβ dysregulation in mice with a glaucoma-causative mutation of ADAMTS10.Matrix biology : journal of the International Society for Matrix Biology · 2022
    Article
  14. Article
  15. Adamts10 controls transforming growth factorFrontiers in molecular biosciences · 2022
    Article
  16. Article
  17. Review
  18. The GGLEAM Study: Understanding Glaucoma in the Ohio Amish.International journal of environmental research and public health · 2021
    Article
  19. TheProceedings of the National Academy of Sciences of the United States of America · 2020
    Article
  20. Increased Susceptibility to Glaucomatous Damage in Microfibril Deficient Mice.Investigative ophthalmology & visual science · 2020
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

81 authors at 20 institutions in 10 countries.

Henriët Springelkamp1] Department of Ophthalmology, Erasmus Medical Center, Rotterdam 3000 CA, The Netherlands [2] Department of Epidemiology, Erasmus Medical Center, Rotterdam 3000 CA, The Netherlands.
René HöhnDepartment of Ophthalmology, University Medical Center Mainz, Mainz 55131, Germany.
Aniket MishraDepartment of Genetics and Computational Biology, Statistical Genetics, QIMR Berghofer Medical Research Institute, Royal Brisbane Hospital, Brisbane, Queensland 4006, Australia.
Pirro G HysiDepartment of Twin Research and Genetic Epidemiology, King's College London, London WC2R 2LS, UK.
Chiea-Chuen Khor1] Department of Ophthalmology, National University of Singapore and National University Health System, Singapore 119077, Singapore [2] Division of Human Genetics, Genome Institute of Singapore, Singapore 138672, Singapore.
Stephanie J LoomisDepartment of Ophthalmology, Harvard Medical School and Massachusetts Eye and Ear Infirmary, Boston, Massachusetts 02114, USA.
Jessica N Cooke Bailey1] Department of Molecular Physiology and Biophysics, Center for Human Genetics Research, Vanderbilt University School of Medicine, Nashville, Tennessee 37232, USA [2] Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio 44106, USA.
Jane GibsonCentre for Biological Sciences, Faculty of Natural and Environmental Sciences, University of Southampton, Southampton SO17 1BJ, UK.
Gudmar ThorleifssondeCODE/Amgen, Reykjavik 101, Iceland.
Sarah F JanssenDepartment of Clinical and Molecular Ophthalmogenetics, The Netherlands Institute for Neuroscience (NIN), Royal Netherlands Academy of Arts and Sciences (KNAW), Amsterdam 1105 BA, the Netherlands.
Xiaoyan LuoDepartment of Ophthalmology, Duke University Eye Center, Durham, North Carolina 27710, USA.
Wishal D RamdasDepartment of Ophthalmology, Erasmus Medical Center, Rotterdam 3000 CA, The Netherlands.
Eranga Vithana1] Department of Ophthalmology, National University of Singapore and National University Health System, Singapore 119077, Singapore [2] Singapore Eye Research Institute, Singapore National Eye Centre, Singapore 168751, Singapore [3] Duke-National University of Singapore, Graduate Medical School, Singapore 169857, Singapore.
Monisha E Nongpiur1] Department of Ophthalmology, National University of Singapore and National University Health System, Singapore 119077, Singapore [2] Singapore Eye Research Institute, Singapore National Eye Centre, Singapore 168751, Singapore.
Grant W MontgomeryDepartment of Genetics and Computational Biology, Molecular Epidemiology Laboratory, QIMR Berghofer Medical Research Institute, Royal Brisbane Hospital, Brisbane, Queensland 4006, Australia.
Liang Xu1] Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China [2] Beijing Ophthalmology and Visual Science Key Lab, Beijing 100730, China.
Jenny E MountainTelethon Institute for Child Health Research, Subiaco, Western Australia 6008, Australia.
Puya GharahkhaniDepartment of Genetics and Computational Biology, Statistical Genetics, QIMR Berghofer Medical Research Institute, Royal Brisbane Hospital, Brisbane, Queensland 4006, Australia.
Yi LuDepartment of Genetics and Computational Biology, Statistical Genetics, QIMR Berghofer Medical Research Institute, Royal Brisbane Hospital, Brisbane, Queensland 4006, Australia.
Najaf AminDepartment of Epidemiology, Erasmus Medical Center, Rotterdam 3000 CA, The Netherlands.
Lennart C KarssenDepartment of Epidemiology, Erasmus Medical Center, Rotterdam 3000 CA, The Netherlands.
Kar-Seng SimDivision of Human Genetics, Genome Institute of Singapore, Singapore 138672, Singapore.
Elisabeth M van LeeuwenDepartment of Epidemiology, Erasmus Medical Center, Rotterdam 3000 CA, The Netherlands.
Adriana I IglesiasDepartment of Epidemiology, Erasmus Medical Center, Rotterdam 3000 CA, The Netherlands.
Virginie J M Verhoeven1] Department of Ophthalmology, Erasmus Medical Center, Rotterdam 3000 CA, The Netherlands [2] Department of Epidemiology, Erasmus Medical Center, Rotterdam 3000 CA, The Netherlands.
Michael A HauserDepartments of Medicine and Ophthalmology, Duke University Medical Center, Durham, North Carolina 27710, USA.
Seng-Chee LoonDepartment of Ophthalmology, National University of Singapore and National University Health System, Singapore 119077, Singapore.
Dominiek D G DesprietDepartment of Ophthalmology, Erasmus Medical Center, Rotterdam 3000 CA, The Netherlands.
Abhishek NagDepartment of Twin Research and Genetic Epidemiology, King's College London, London WC2R 2LS, UK.
Cristina Venturini1] Department of Twin Research and Genetic Epidemiology, King's College London, London WC2R 2LS, UK [2] UCL Institute of Ophthalmology, London EC1V 9EL, UK.
Paul G SanfilippoCentre for Eye Research Australia (CERA), University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria 3002, Australia.
Arne SchillertInstitute of Medical Biometry and Statistics, University of Lübeck, Lübeck 23562, Germany.
Jae H KangDepartment of Medicine, Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, Massachusetts 02115, USA.
John LandersDepartment of Ophthalmology, Flinders University, Adelaide, South Australia 5042, Australia.
Fridbert Jonasson1] Faculty of Medicine, University of Iceland, Reykjavik 101, Iceland [2] Department of Ophthalmology, Landspitali National University Hospital, Reykjavik 101, Iceland.
Angela J CreeClinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton SO17 1BJ, UK.
Leonieke M E van KoolwijkDepartment of Epidemiology, Erasmus Medical Center, Rotterdam 3000 CA, The Netherlands.
Fernando Rivadeneira1] Department of Epidemiology, Erasmus Medical Center, Rotterdam 3000 CA, The Netherlands [2] Department of Internal Medicine, Erasmus Medical Center, Rotterdam 3000 CA, The Netherlands [3] Netherlands Consortium for Healthy Ageing, Netherlands Genomics Initiative, The Hague 2593 CE, The Netherlands.
Emmanuelle SouzeauDepartment of Ophthalmology, Flinders University, Adelaide, South Australia 5042, Australia.
Vesteinn JonssonDepartment of Ophthalmology, Landspitali National University Hospital, Reykjavik 101, Iceland.
Geeta MenonDepartment of Ophthalmology, Frimley Park Hospital NHS Foundation Trust, Frimley GU16 7UJ, UK.
Blue Mountains Eye Study—GWAS group
Robert N WeinrebDepartment of Ophthalmology and Hamilton Glaucoma Center, University of California, San Diego, California 92093, USA.
Paulus T V M de Jong1] Department of Epidemiology, Erasmus Medical Center, Rotterdam 3000 CA, The Netherlands [2] Department of Retinal Signal Processing, Netherlands Institute for Neuroscience, Amsterdam 1105 BA, The Netherlands [3] Department of Ophthalmology, Academic Medical Center, Amsterdam 1105 AZ, The Netherlands [4] Department of Ophthalmology, Leiden University Medical Center, Leiden 2333 ZA, The Netherlands.
Ben A OostraDepartment of Clinical Genetics, Erasmus Medical Center, Rotterdam 3000 CA, The Netherlands.
André G Uitterlinden1] Department of Epidemiology, Erasmus Medical Center, Rotterdam 3000 CA, The Netherlands [2] Department of Internal Medicine, Erasmus Medical Center, Rotterdam 3000 CA, The Netherlands [3] Netherlands Consortium for Healthy Ageing, Netherlands Genomics Initiative, The Hague 2593 CE, The Netherlands.
Albert Hofman1] Department of Epidemiology, Erasmus Medical Center, Rotterdam 3000 CA, The Netherlands [2] Netherlands Consortium for Healthy Ageing, Netherlands Genomics Initiative, The Hague 2593 CE, The Netherlands.
Sarah EnnisHuman Development and Health, Faculty of Medicine, University of Southampton, Southampton SO17 1BJ, UK.
Unnur Thorsteinsdottir1] deCODE/Amgen, Reykjavik 101, Iceland [2] Faculty of Medicine, University of Iceland, Reykjavik 101, Iceland.
Kathryn P BurdonDepartment of Ophthalmology, Flinders University, Adelaide, South Australia 5042, Australia.
NEIGHBORHOOD Consortium
Wellcome Trust Case Control Consortium 2 (WTCCC2)
Timothy D SpectorDepartment of Twin Research and Genetic Epidemiology, King's College London, London WC2R 2LS, UK.
Alireza MirshahiDepartment of Ophthalmology, University Medical Center Mainz, Mainz 55131, Germany.
Seang-Mei Saw1] Department of Ophthalmology, National University of Singapore and National University Health System, Singapore 119077, Singapore [2] Singapore Eye Research Institute, Singapore National Eye Centre, Singapore 168751, Singapore [3] Duke-National University of Singapore, Graduate Medical School, Singapore 169857, Singapore [4] Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore 117597, Singapore.
Johannes R Vingerling1] Department of Ophthalmology, Erasmus Medical Center, Rotterdam 3000 CA, The Netherlands [2] Department of Epidemiology, Erasmus Medical Center, Rotterdam 3000 CA, The Netherlands.
Yik-Ying Teo1] Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore 117597, Singapore [2] Department of Statistics and Applied Probability, National University of Singapore, Singapore 119077, Singapore.
Jonathan L Haines1] Department of Molecular Physiology and Biophysics, Center for Human Genetics Research, Vanderbilt University School of Medicine, Nashville, Tennessee 37232, USA [2] Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio 44106, USA.
Roger C W WolfsDepartment of Ophthalmology, Erasmus Medical Center, Rotterdam 3000 CA, The Netherlands.
Hans G LemijGlaucoma Service, The Rotterdam Eye Hospital, Rotterdam 3011 BH, The Netherlands.
E-Shyong Tai1] Duke-National University of Singapore, Graduate Medical School, Singapore 169857, Singapore [2] Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore 117597, Singapore [3] Department of Medicine, National University of Singapore and National University Health System, Singapore 119077, Singapore.
Nomdo M JansoniusDepartment of Ophthalmology, University of Groningen, University Medical Center Groningen, Groningen 9700 RB, The Netherlands.
Jost B Jonas1] Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China [2] Department of Ophthalmology, Medical Faculty Mannheim of the Ruprecht-Karls-University of Heidelberg, Seegartenklinik Heidelberg, Heidelberg 69117, Germany.
Ching-Yu Cheng1] Department of Ophthalmology, National University of Singapore and National University Health System, Singapore 119077, Singapore [2] Singapore Eye Research Institute, Singapore National Eye Centre, Singapore 168751, Singapore [3] Duke-National University of Singapore, Graduate Medical School, Singapore 169857, Singapore.
Tin Aung1] Department of Ophthalmology, National University of Singapore and National University Health System, Singapore 119077, Singapore [2] Singapore Eye Research Institute, Singapore National Eye Centre, Singapore 168751, Singapore.
Ananth C ViswanathanNIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, London EC1V 2PD, UK.
Caroline C W Klaver1] Department of Ophthalmology, Erasmus Medical Center, Rotterdam 3000 CA, The Netherlands [2] Department of Epidemiology, Erasmus Medical Center, Rotterdam 3000 CA, The Netherlands.
Jamie E CraigDepartment of Ophthalmology, Flinders University, Adelaide, South Australia 5042, Australia.
Stuart MacgregorDepartment of Genetics and Computational Biology, Statistical Genetics, QIMR Berghofer Medical Research Institute, Royal Brisbane Hospital, Brisbane, Queensland 4006, Australia.
David A Mackey1] Centre for Eye Research Australia (CERA), University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria 3002, Australia [2] Centre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, Western Australia 6009, Australia.
Andrew J LoteryClinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton SO17 1BJ, UK.
Kari Stefansson1] deCODE/Amgen, Reykjavik 101, Iceland [2] Faculty of Medicine, University of Iceland, Reykjavik 101, Iceland.
Arthur A B Bergen1] Department of Clinical and Molecular Ophthalmogenetics, The Netherlands Institute for Neuroscience (NIN), Royal Netherlands Academy of Arts and Sciences (KNAW), Amsterdam 1105 BA, the Netherlands [2] Department of Ophthalmology, Academic Medical Center, Amsterdam 1105 AZ, The Netherlands [3] Department of Clinical Genetics, Academic Medical Center, Amsterdam 1105 AZ, The Netherlands.
Terri L YoungDepartment of Ophthalmology, Duke University Eye Center, Durham, North Carolina 27710, USA.
Janey L WiggsDepartment of Ophthalmology, Harvard Medical School and Massachusetts Eye and Ear Infirmary, Boston, Massachusetts 02114, USA.
Norbert PfeifferDepartment of Ophthalmology, University Medical Center Mainz, Mainz 55131, Germany.
Tien-Yin Wong1] Department of Ophthalmology, National University of Singapore and National University Health System, Singapore 119077, Singapore [2] Singapore Eye Research Institute, Singapore National Eye Centre, Singapore 168751, Singapore [3] Duke-National University of Singapore, Graduate Medical School, Singapore 169857, Singapore.
Louis R Pasquale1] Department of Ophthalmology, Harvard Medical School and Massachusetts Eye and Ear Infirmary, Boston, Massachusetts 02114, USA [2] Department of Medicine, Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, Massachusetts 02115, USA.
Alex W HewittCentre for Eye Research Australia (CERA), University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria 3002, Australia.
Cornelia M van DuijnDepartment of Epidemiology, Erasmus Medical Center, Rotterdam 3000 CA, The Netherlands.
Christopher J HammondDepartment of Twin Research and Genetic Epidemiology, King's College London, London WC2R 2LS, UK.
Wellcome Sanger Institute · GBCentre for Human Genetics · GBErasmus MC · NLMassachusetts Eye and Ear Infirmary · USNational University of Singapore · SGKing's College London · GBGuy's Hospital · GBThe University of Melbourne · AUBrigham and Women's Hospital · USFlinders University · AUMoorfields Eye Hospital NHS Foundation Trust · GBdeCODE Genetics (Iceland) · ISQIMR Berghofer Medical Research Institute · AUThe University of Sydney · AUUniversity of Miami · USSingapore National Eye Center · SGThe Kids Research Institute Australia · AUThe University of Queensland · AUUniversity of Michigan · USVanderbilt University · US

Funding

Statistical MethodsP01CA087969 · NCI · BRIGHAM AND WOMEN'S HOSPITAL · PI TWOROGER, SHELLEY S · 2000 to 2019
$77.8M
A Center for GEI Association StudiesU01HG004424 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI GABRIEL, STACEY · 2007 to 2010
$21.4M
Structural dynamics of developing auditory circuitsP20RR015574 · NCRR · WEST VIRGINIA UNIVERSITY · PI LEWIS, JAMES W · 2000 to 2009
$18.1M
Novel Glaucoma Diagnostics for Structure and Function - Renewal - 1R01EY013178 · NEI · WILLS EYE HEALTH SYSTEM · PI Joel S Schuman · 2000 to 2026
$17.5M
P30 Core Grant for Vision ResearchP30EY014104 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI Eric A Pierce · 2002 to 2026
$15.1M
SNP discoveryP01HL073042 · NHLBI · DUKE UNIVERSITY · PI NEVINS, JOSEPH R · 2002 to 2006
$13.5M
Unifying Genetics Epidemiology of Macular DegenerationR01EY012118 · NEI · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI AGARWAL, ANITA, HAINES, JONATHAN L · 2006 to 2015
$12.2M
BIOCHEMICAL MARKERS IN THE NURSES'HEALTH STUDY COHORTR01CA049449 · NCI · BRIGHAM AND WOMEN'S HOSPITAL · PI HANKINSON, SUSAN E · 1989 to 2008
$11.3M
Diagnostic Innovations in Glaucoma:Structural AssessmentR01EY011008 · NEI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI ZANGWILL, LINDA M · 1995 to 2015
$8.7M
Gene-Environment Interactions in GlaucomaR01EY015473 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI PASQUALE, LOUIS ROBERT · 2005 to 2021
$8.3M
The Molecular Genetics of High MyopiaR01EY014685 · NEI · UNIVERSITY OF WISCONSIN-MADISON · PI YOUNG, TERRI LOIS · 2003 to 2017
$8.1M
The NEIGHBORHOOD: POAG Heritable Overall Operational DatabaseR01EY022305 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI WIGGS, JANEY L · 2012 to 2025
$7.9M
British Heart Foundation PG/13/66/30442Department of Health SRF/01/010Medical Research Council G0400126NCI NIH HHS CA49449NCI NIH HHS CA55075NCI NIH HHS CA87969NCRR NIH HHS RR015574NEI NIH HHS 3R01EY015872-05S1NEI NIH HHS 3R01EY019126-02S1NEI NIH HHS EY006827NEI NIH HHS EY008208NEI NIH HHS EY009149NEI NIH HHS EY009847NEI NIH HHS EY010886NEI NIH HHS EY011008NEI NIH HHS EY011671NEI NIH HHS EY012118NEI NIH HHS EY013178NEI NIH HHS EY015473NEI NIH HHS EY015543NEI NIH HHS EY015682NEI NIH HHS EY015872NEI NIH HHS EY09580NEI NIH HHS EY13315NEI NIH HHS EY144428NEI NIH HHS EY144448NEI NIH HHS EY18660NEI NIH HHS P30 EY014104NEI NIH HHS P30EY014104NEI NIH HHS R01 EY014685NEI NIH HHS R01 EY015473NEI NIH HHS R01 EY022305NEI NIH HHS R01EY022305NEI NIH HHS R01 EY022306NEI NIH HHS R01 EY023512NEI NIH HHS T32 EY007157NEI NIH HHS T32 EY021453NEI NIH HHS T32 EY21453-2NHGRI NIH HHS HG004608NHGRI NIH HHS HG004728NHGRI NIH HHS HG005259-01NHGRI NIH HHS HHSN268200782096CNHGRI NIH HHS U01-HG004424NHGRI NIH HHS U01 HG004446NHGRI NIH HHS U01 HG004728NHLBI NIH HHS HL073389NHLBI NIH HHS HL73042Wellcome Trust 076113Wellcome Trust 085475/B/08/ZWellcome Trust 085475/Z/08/Z
6 · The paper itself

Abstract

Glaucoma is characterized by irreversible optic nerve degeneration and is the most frequent cause of irreversible blindness worldwide. Here, the International Glaucoma Genetics Consortium conducts a meta-analysis of genome-wide association studies of vertical cup-disc ratio (VCDR), an important disease-related optic nerve parameter. In 21,094 individuals of European ancestry and 6,784 individuals of Asian ancestry, we identify 10 new loci associated with variation in VCDR. In a separate risk-score analysis of five case-control studies, Caucasians in the highest quintile have a 2.5-fold increased risk of primary open-angle glaucoma as compared with those in the lowest quintile. This study has more than doubled the known loci associated with optic disc cupping and will allow greater understanding of mechanisms involved in this common blinding condition.

Indexed as

Genome-Wide Association StudyAsian PeopleCase-Control StudiesGene Expression ProfilingGene FrequencyGenotypeGlaucomaHumansOptic DiskOptic NervePhenotypePolymorphism, Single NucleotideWhite People

Identifiers

PMID25241763
PMCPMC4199103
OpenAlexW2105753034

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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.