Evidence map›Paper›PMID 25706626›Full record

ArticleNature genetics2015

A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome.

Tin Aung, Mineo Ozaki, Takanori Mizoguchi, R Rand Allingham, Zheng Li, Aravind Haripriya, Satoko Nakano, Steffen Uebe, Jeffrey M Harder, Anita S Y Chan and 153 more

Erratum issuedOpen access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Nature genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 52 papers, 6 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
52citing papers in PubMed, 6 pooled it
6.3field-weighted citation impact, top 2% 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

52 citing papers in PubMed, 6 syntheses or guidelines pooled it, 128 citations in OpenAlex.

  1. Pooled it
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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

163 authors at 20 institutions in 20 countries.

Tin Aung1] Singapore Eye Research Institute, Singapore. [2] Singapore National Eye Center, Singapore. [3] Department of Ophthalmology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore. [4] Division of Human Genetics, Genome Institute of Singapore, Singapore. [5] Duke University-National University of Singapore Graduate Medical School, Singapore.
Mineo Ozaki1] Ozaki Eye Hospital, Hyuga, Japan. [2] Hayashi Eye Hospital, Fukuoka, Japan.
Takanori MizoguchiMizoguchi Eye Hospital, Sasebo, Japan.
R Rand AllinghamDepartment of Ophthalmology, Duke University Eye Center, Durham, North Carolina, USA.
Zheng LiDivision of Human Genetics, Genome Institute of Singapore, Singapore.
Aravind HaripriyaIntraocular Lens and Cataract Clinic, Aravind Eye Hospital, Madurai, India.
Satoko NakanoDepartment of Ophthalmology, Oita University Faculty of Medicine, Oita, Japan.
Steffen UebeInstitute of Human Genetics, Friedrich Alexander Universität Erlangen-Nürnberg, Erlangen-Nürnberg, Germany.
Jeffrey M HarderHoward Hughes Medical Institute, Jackson Laboratory, Bar Harbor, Maine, USA.
Anita S Y Chan1] Singapore Eye Research Institute, Singapore. [2] Singapore National Eye Center, Singapore.
Mei Chin LeeSingapore Eye Research Institute, Singapore.
Kathryn P Burdon1] Department of Ophthalmology, Flinders University, Adelaide, South Australia, Australia. [2] Menzies Institute for Medical Research, University of Tasmania, Hobart, Tasmania, Australia.
Yury S AstakhovDepartment of Ophthalmology, First Pavlov State Medical University of St. Petersburg, St. Petersburg, Russia.
Khaled K Abu-Amero1] Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia. [2] Department of Ophthalmology, College of Medicine, University of Florida, Jacksonville, Florida, USA.
Juan C Zenteno1] Department of Genetics, Institute of Ophthalmology Conde de Valenciana, Mexico City, Mexico. [2] Department of Biochemistry, Faculty of Medicine, Universidad Nacional Autónoma de México, Mexico City, Mexico.
Yildirim NilgünDepartment of Ophthalmology, Eskisehir Osmangazi University, Meselik, Turkey.
Tomasz ZarnowskiDepartment of Diagnostics and Microsurgery of Glaucoma, Medical University, Lublin, Poland.
Mohammad PakravanDepartment of Ophthalmology, Ophthalmic Research Center, Labbafinejad Medical Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Leen Abu SafiehKing Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.
Liyun JiaBeijing Ophthalmology and Visual Sciences Key Laboratory, Beijing Tongren Eye Centre, Beijing Tongren Hospital, Capital Medical University, Beijing, China.
Ya Xing WangBeijing Institute of Ophthalmology, Beijing Tongren Hospital, Capital University of Medical Science, Beijing, China.
Susan WilliamsDivision of Ophthalmology, Department of Neurosciences, University of the Witwatersrand, Johannesburg, South Africa.ORCID 0000000244798638
Daniela PaoliDepartment of Ophthalmology, Monfalcone Hospital, Gorizia, Italy.
Patricio G SchlottmannOrganización Médica de Investigación, Buenos Aires, Argentina.
Lulin Huang1] 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.
Kar Seng SimDivision of Human Genetics, Genome Institute of Singapore, Singapore.ORCID 0000000238227759
Jia Nee FooDivision of Human Genetics, Genome Institute of Singapore, Singapore.ORCID 0000000198992308
Masakazu NakanoDepartment of Genomic Medical Sciences, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Yoko IkedaDepartment of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Rajesh S KumarGlaucoma Services, Narayana Nethralaya Eye Hospital, Bangalore, India.
Morio UenoDepartment of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Shin-ichi ManabeHayashi Eye Hospital, Fukuoka, Japan.
Ken HayashiHayashi Eye Hospital, Fukuoka, Japan.
Shigeyasu KazamaShinjo Eye Clinic, Miyazaki, Japan.
Ryuichi IdetaIdeta Eye Hospital, Kumamoto, Japan.
Yosai MoriMiyata Eye Hospital, Miyazaki, Japan.
Kazunori Miyata1] Miyata Eye Hospital, Miyazaki, Japan. [2] Department of Ophthalmology, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.
Kazuhisa SugiyamaDepartment of Ophthalmology and Visual Science, Kanazawa University Graduate School of Medical Science, Kanazawa University, Kanazawa, Japan.
Tomomi HigashideDepartment of Ophthalmology and Visual Science, Kanazawa University Graduate School of Medical Science, Kanazawa University, Kanazawa, Japan.
Etsuo ChiharaSensho-kai Eye Institute, Kyoto, Japan.
Kenji InoueInouye Eye Hospital, Tokyo, Japan.
Satoshi IshikoDepartment of Medicine and Engineering Combined Research Institute, Asahikawa Medical University, Asahikawa, Japan.
Akitoshi YoshidaDepartment of Ophthalmology, Asahikawa Medical University, Asahikawa, Japan.
Masahide YanagiDepartment of Ophthalmology and Visual Science, Hiroshima University, Hiroshima, Japan.
Yoshiaki KiuchiDepartment of Ophthalmology and Visual Science, Hiroshima University, Hiroshima, Japan.
Makoto AiharaYotsuya Shirato Eye Clinic, Tokyo, Japan.
Tsutomu OhashiOhashi Eye Center, Sapporo, Japan.
Toshiya SakuraiTane Memorial Eye Hospital, Osaka, Japan.
Takako SugimotoDepartment of Ophthalmology, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.
Hideki ChumanDepartment of Ophthalmology, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.
Fumihiko MatsudaCenter for Genomic Medicine/INSERM U852, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Kenji YamashiroDepartment of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan.ORCID 0000000193548558
Norimoto GotohDepartment of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Masahiro Miyake1] Center for Genomic Medicine/INSERM U852, Kyoto University Graduate School of Medicine, Kyoto, Japan. [2] Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Sergei Y AstakhovDepartment of Ophthalmology, First Pavlov State Medical University of St. Petersburg, St. Petersburg, Russia.
Essam A OsmanDepartment of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Saleh A Al-ObeidanDepartment of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Ohoud OwaidhahDepartment of Ophthalmology, Ophthalmic Research Center, Labbafinejad Medical Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Leyla Al-JasimDepartment of Ophthalmology, Ophthalmic Research Center, Labbafinejad Medical Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Sami Al ShahwanDepartment of Ophthalmology, Ophthalmic Research Center, Labbafinejad Medical Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Rhys A FogartyDepartment of Ophthalmology, Flinders University, Adelaide, South Australia, Australia.
Paul LeoUniversity of Queensland Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital, Brisbane, Queensland, Australia.
Yaz YetkinDepartment of Ophthalmology, Eskisehir Osmangazi University, Meselik, Turkey.
Çilingir OğuzDepartment of Ophthalmology, Eskisehir Osmangazi University, Meselik, Turkey.
Mozhgan Rezaei KanaviDepartment of Ophthalmology, Ophthalmic Research Center, Labbafinejad Medical Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Afsaneh Nederi BeniDepartment of Ophthalmology, Ophthalmic Research Center, Labbafinejad Medical Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Shahin YazdaniDepartment of Ophthalmology, Ophthalmic Research Center, Labbafinejad Medical Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Evgeny L AkopovDepartment of Ophthalmology, First Pavlov State Medical University of St. Petersburg, St. Petersburg, Russia.
Kai-Yee TohDivision of Human Genetics, Genome Institute of Singapore, Singapore.
Gareth R HowellHoward Hughes Medical Institute, Jackson Laboratory, Bar Harbor, Maine, USA.
Andrew C OrrDepartment of Ophthalmology and Visual Sciences, Dalhousie University, Halifax, Nova Scotia, Canada.
Yufen GohDivision of Human Genetics, Genome Institute of Singapore, Singapore.
Wee Yang MeahDivision of Human Genetics, Genome Institute of Singapore, Singapore.
Su Qin PehDivision of Human Genetics, Genome Institute of Singapore, Singapore.
Ewa Kosior-JareckaDepartment of Diagnostics and Microsurgery of Glaucoma, Medical University, Lublin, Poland.
Urszula LukasikDepartment of Diagnostics and Microsurgery of Glaucoma, Medical University, Lublin, Poland.
Mandy KrumbiegelInstitute of Human Genetics, Friedrich Alexander Universität Erlangen-Nürnberg, Erlangen-Nürnberg, Germany.
Eranga N VithanaSingapore Eye Research Institute, Singapore.
Tien Yin Wong1] Singapore Eye Research Institute, Singapore. [2] Singapore National Eye Center, Singapore. [3] Department of Ophthalmology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.
Yutao Liu1] Department of Medicine, Duke University Medical Center, Durham, North Carolina, USA. [2] Department of Cellular Biology and Anatomy, Georgia Regents University, Augusta, Georgia, USA.
Allison E Ashley KochDepartment of Medicine, Duke University Medical Center, Durham, North Carolina, USA.
Pratap ChallaDepartment of Ophthalmology, Duke University Eye Center, Durham, North Carolina, USA.
Robyn M RautenbachDivision of Ophthalmology, Faculty of Medicine and Health Sciences, University of Stellenbosch, Cape Town, South Africa.
David A MackeyCentre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, Western Australia, Australia.
Alex W Hewitt1] Menzies Institute for Medical Research, University of Tasmania, Hobart, Tasmania, Australia. [2] Centre for Eye Research Australia (CERA), University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia.
Paul MitchellCentre for Vision Research, Department of Ophthalmology and Westmead Millennium Institute, University of Sydney, Sydney, New South Wales, Australia.
Jie Jin WangCentre for Vision Research, Department of Ophthalmology and Westmead Millennium Institute, University of Sydney, Sydney, New South Wales, Australia.
Ari ZiskindDivision of Ophthalmology, Faculty of Medicine and Health Sciences, University of Stellenbosch, Cape Town, South Africa.
Trevor CarmichaelDivision of Ophthalmology, Department of Neurosciences, University of the Witwatersrand, Johannesburg, South Africa.
Rangappa RamakrishnanIntraocular Lens and Cataract Clinic, Aravind Eye Hospital, Madurai, India.
Kalpana NarendranIntraocular Lens and Cataract Clinic, Aravind Eye Hospital, Madurai, India.
Rangaraj VenkateshIntraocular Lens and Cataract Clinic, Aravind Eye Hospital, Madurai, India.
Saravanan VijayanDepartment of Genetics, Aravind Medical Research Foundation, Madurai, India.
Peiquan ZhaoDepartment of Ophthalmology, Xin Hua Hospital affiliated to Shanghai Jiao Tong University, School of Medicine, Shanghai, China.
Xueyi ChenDepartment of Ophthalmology, First Affiliated Hospital of Xinjiang Medical University, Urumchi, Xinjiang Uygur Autonomous Region, China.
Dalia Guadarrama-Vallejo1] Department of Genetics, Institute of Ophthalmology Conde de Valenciana, Mexico City, Mexico. [2] Department of Biochemistry, Faculty of Medicine, Universidad Nacional Autónoma de México, Mexico City, Mexico.
Ching Yu Cheng1] Singapore Eye Research Institute, Singapore. [2] Department of Ophthalmology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.
Shamira A Perera1] Singapore Eye Research Institute, Singapore. [2] Singapore National Eye Center, Singapore.
Rahat Husain1] Singapore Eye Research Institute, Singapore. [2] Singapore National Eye Center, Singapore.
Su-Ling HoNational Healthcare Group Eye Institute, Tan Tock Seng Hospital, Singapore.
Ulrich-Christoph Welge-LuessenDepartment of Ophthalmology, Friedrich Alexander Universität Erlangen-Nürnberg, Erlangen-Nürnberg, Germany.
Christian MardinDepartment of Ophthalmology, Friedrich Alexander Universität Erlangen-Nürnberg, Erlangen-Nürnberg, Germany.
Ursula Schloetzer-SchrehardtDepartment of Ophthalmology, Friedrich Alexander Universität Erlangen-Nürnberg, Erlangen-Nürnberg, Germany.
Axel M HillmerCancer Therapeutics and Stratified Oncology, Genome Institute of Singapore, Singapore.
Stefan Herms1] Institute of Human Genetics, University of Bonn, Bonn, Germany. [2] Department of Genomics, Life &Brain Center, University of Bonn, Bonn, Germany. [3] Division of Medical Genetics, University Hospital, Basel, Switzerland. [4] Human Genetics Research Group, Department of Biomedicine, University of Basel, Basel, Switzerland.
Susanne MoebusInstitute for Medical Informatics, Biometry and Epidemiology, University Hospital of Essen, University Duisburg-Essen, Essen, Germany.
Markus M Nöthen1] Institute of Human Genetics, University of Bonn, Bonn, Germany. [2] Department of Genomics, Life &Brain Center, University of Bonn, Bonn, Germany.
Nicole WeisschuhInstitute for Ophthalmic Research, Department of Ophthalmology, Tübingen, Germany.
Rohit ShettyGlaucoma Services, Narayana Nethralaya Eye Hospital, Bangalore, India.
Arkasubhra Ghosh1] Singapore Eye Research Institute, Singapore. [2] Genes, Repair and Regeneration in Ophthalmic Workstation Research Laboratory, Narayana Nethralaya Foundation, Bangalore, India.
Yik Ying Teo1] Department of Ophthalmology, Duke University Eye Center, Durham, North Carolina, USA. [2] Saw Swee Hock School of Public Health, National University of Singapore, Singapore.
Matthew A BrownUniversity of Queensland Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital, Brisbane, Queensland, Australia.
Ignacio LischinskyCentro Oftalmológico Lischinsky, Tucumán, Argentina.
Blue Mountains Eye Study GWAS Team
Wellcome Trust Case Control Consortium 2
Jonathan G Crowston1] Centre for Eye Research Australia (CERA), University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia. [2] Department of Ophthalmology, University of Melbourne, Melbourne, Victoria, Australia.
Michael Coote1] Centre for Eye Research Australia (CERA), University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia. [2] Department of Ophthalmology, University of Melbourne, Melbourne, Victoria, Australia.
Bowen ZhaoKing Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.
Jinghong SangBeijing Ophthalmology and Visual Sciences Key Laboratory, Beijing Tongren Eye Centre, Beijing Tongren Hospital, Capital Medical University, Beijing, China.
Nihong ZhangBeijing Ophthalmology and Visual Sciences Key Laboratory, Beijing Tongren Eye Centre, Beijing Tongren Hospital, Capital Medical University, Beijing, China.
Qisheng YouBeijing Institute of Ophthalmology, Beijing Tongren Hospital, Capital University of Medical Science, Beijing, China.ORCID 0000000307437320
Vera VysochinskayaSt. Petersburg Academic University, St. Petersburg, Russia.
Panayiota FountiDepartment of Ophthalmology, Faculty of Medicine, Aristotle University of Thessaloniki, American Hellenic Educational Progressive Association Hospital, Thessaloniki, Greece.
Anthoula ChatzikyriakidouDepartment of Biology and Genetics, Faculty of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Alexandros LambropoulosDepartment of Biology and Genetics, Faculty of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Eleftherios AnastasopoulosDepartment of Ophthalmology, Faculty of Medicine, Aristotle University of Thessaloniki, American Hellenic Educational Progressive Association Hospital, Thessaloniki, Greece.
Anne L ColemanCenter for Community Outreach and Policy, Stein Eye Institute, David Geffen School of Medicine at the University of California, Los Angeles, Los Angeles, California, USA.
M Roy WilsonWayne State University, Detroit, Michigan, USA.
Douglas J RheeDepartment of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA.
Jae Hee KangChanning Division of Network Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA.
Inna May-BolchakovaDepartment of Ophthalmology, Military Hospital Begin, Paris, France.
Steffen Heegaard1] Eye Pathology Institute, Department of Neuroscience and Pharmacology, University of Copenhagen, Copenhagen, Denmark. [2] Department of Ophthalmology, Glostrup University Hospital, Glostrup, Denmark.
Kazuhiko MoriDepartment of Genomic Medical Sciences, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Wallace L M Alward1] Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City, Iowa, USA. [2] Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA.
Jost B JonasDepartment of Ophthalmology, Medical Faculty Mannheim of the Ruprecht Karls University Heidelberg, Heidelberg, Germany.ORCID 0000000329725227
Liang XuBeijing Institute of Ophthalmology, Beijing Tongren Hospital, Capital University of Medical Science, Beijing, China.
Jeffrey M LiebmannNew York University School of Medicine, Manhattan Eye, Ear and Throat Hospital, New York, New York, USA.
Balram ChowbayDivision of Medical Sciences, Humphrey Oei Institute of Cancer Research, National Cancer Centre of Singapore, Singapore.
Elke SchaeffelerDr. Margarete Fischer-Bosch Institute of Clinical Pharmacology, Stuttgart, Germany.
Matthias Schwab1] Dr. Margarete Fischer-Bosch Institute of Clinical Pharmacology, Stuttgart, Germany. [2] Department of Clinical Pharmacology, University Hospital, Tübingen, Germany. [3] German Cancer Consortium (DKTK), German Cancer Research Center, Heidelberg, Germany.
Fabian LernerFundación para el Estudio del Glaucoma, Buenos Aires, Argentina.
Ningli WangBeijing Ophthalmology and Visual Sciences Key Laboratory, Beijing Tongren Eye Centre, Beijing Tongren Hospital, Capital Medical University, Beijing, China.
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.
Paolo FrezzottiDepartment of Surgery, Section of Ophthalmology, University of Siena, Siena, Italy.
Shigeru KinoshitaDepartment of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan.
John H Fingert1] Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City, Iowa, USA. [2] Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA.
Masaru InataniDepartment of Ophthalmology, Faculty of Medical Science, University of Fukui, Fukui, Japan.
Kei TashiroDepartment of Genomic Medical Sciences, Kyoto Prefectural University of Medicine, Kyoto, Japan.
André ReisInstitute of Human Genetics, Friedrich Alexander Universität Erlangen-Nürnberg, Erlangen-Nürnberg, Germany.ORCID 0000000263016363
Deepak P Edward1] King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia. [2] Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Louis R Pasquale1] Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA. [2] Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA.
Toshiaki KubotaDepartment of Ophthalmology, Oita University Faculty of Medicine, Oita, Japan.
Janey L WiggsDepartment of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA.
Francesca PasuttoInstitute of Human Genetics, Friedrich Alexander Universität Erlangen-Nürnberg, Erlangen-Nürnberg, Germany.
Fotis TopouzisDepartment of Ophthalmology, Faculty of Medicine, Aristotle University of Thessaloniki, American Hellenic Educational Progressive Association Hospital, Thessaloniki, Greece.
Michael Dubina1] Department of Ophthalmology, First Pavlov State Medical University of St. Petersburg, St. Petersburg, Russia. [2] St. Petersburg Academic University, St. Petersburg, Russia.
Jamie E CraigDepartment of Ophthalmology, Flinders University, Adelaide, South Australia, Australia.
Nagahisa YoshimuraDepartment of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Periasamy SundaresanDepartment of Genetics, Aravind Medical Research Foundation, Madurai, India.
Simon W M JohnHoward Hughes Medical Institute, Jackson Laboratory, Bar Harbor, Maine, USA.
Robert RitchEinhorn Clinical Research Center, New York Eye and Ear Infirmary of Mount Sinai, New York, New York, USA.
Michael A Hauser1] Department of Ophthalmology, Duke University Eye Center, Durham, North Carolina, USA. [2] Department of Medicine, Duke University Medical Center, Durham, North Carolina, USA.
Chiea-Chuen Khor1] Singapore Eye Research Institute, Singapore. [2] Department of Ophthalmology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore. [3] Division of Human Genetics, Genome Institute of Singapore, Singapore.
Beijing Tongren Hospital · CNFriedrich-Alexander-Universität Erlangen-Nürnberg · DENational University of Singapore · SGHoward Hughes Medical Institute · USKyoto Prefectural University of Medicine · JPKyoto University · JPMassachusetts Eye and Ear Infirmary · USMedical University of Lublin · PLAravind Eye Hospital · INDuke University · USFirst Pavlov State Medical University of St. Petersburg · RUFlinders University · AUGenome Institute of Singapore · SGShahid Beheshti University of Medical Sciences · IRSingapore National Eye Center · SGTranslational Research Institute · AUAristotle University of Thessaloniki · GRHayashi Eye Hospital · JPHiroshima University · JPKanazawa University · JP

Funding

P30 Core Grant for Vision ResearchP30EY014104 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI Eric A Pierce · 2002 to 2026
$15.1M
Factors Determining Intraocular Pressure and Glaucoma SusceptibilityR01EY011721 · NEI · JACKSON LABORATORY · PI JOHN, SIMON W · 2002 to 2018
$12.4M
Genetic and Environmental Risk Factors for Exfoliation Syndrome and GlaucomaR01EY020928 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI KANG, JAE H, WIGGS, JANEY L · 2011 to 2025
$7.3M
Genetics of Quantitative Traits Associated with GlaucomaR01EY018825 · NEI · UNIVERSITY OF IOWA · PI FINGERT, JOHN H · 2009 to 2013
$3.2M
Molecular Genetics of Norma Tension GlaucomaR01EY023512 · NEI · UNIVERSITY OF IOWA · PI FINGERT, JOHN H, MULLINS, ROBERT FOSTER · 2014 to 2017
$1.8M
Genetic Studies of Pseudoexfoliation GlaucomaR01EY013882 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI WIGGS, JANEY L · 2001 to 2004
$1.2M
FACTORS DETERMINING INTRAOCULAR PRESSURER29EY011721 · NEI · JACKSON LABORATORY · PI JOHN, SIMON W · 1997 to 2001
$227k
Howard Hughes Medical InstituteNEI NIH HHS EY018825NEI NIH HHS EY023512NEI NIH HHS EY11721NEI NIH HHS P30 EY014104NEI NIH HHS R01 EY011721NEI NIH HHS R01 EY013882NEI NIH HHS R01 EY018825NEI NIH HHS R01 EY020928NEI NIH HHS R01 EY023512NEI NIH HHS R29 EY011721Wellcome TrustWellcome Trust 085475/08/ZWellcome Trust 085475/B/08/Z
6 · The paper itself

Abstract

Exfoliation syndrome (XFS) is the most common recognizable cause of open-angle glaucoma worldwide. To better understand the etiology of XFS, we conducted a genome-wide association study (GWAS) of 1,484 cases and 1,188 controls from Japan and followed up the most significant findings in a further 6,901 cases and 20,727 controls from 17 countries across 6 continents. We discovered a genome-wide significant association between a new locus (CACNA1A rs4926244) and increased susceptibility to XFS (odds ratio (OR) = 1.16, P = 3.36 × 10(-11)). Although we also confirmed overwhelming association at the LOXL1 locus, the key SNP marker (LOXL1 rs4886776) demonstrated allelic reversal depending on the ancestry group (Japanese: OR(A allele) = 9.87, P = 2.13 × 10(-217); non-Japanese: OR(A allele) = 0.49, P = 2.35 × 10(-31)). Our findings represent the first genetic locus outside of LOXL1 surpassing genome-wide significance for XFS and provide insight into the biology and pathogenesis of the disease.

Indexed as

Polymorphism, Single NucleotideAnimalsAsian PeopleCalcium ChannelsCalcium Channels, N-TypeCase-Control StudiesChromosome MappingExfoliation SyndromeGenetic Predisposition to DiseaseGenome-Wide Association StudyGlaucoma, Open-AngleHEK293 CellsHeLa CellsHumansJapanMCF-7 CellsCACNA1A protein, humanCalcium ChannelsCalcium Channels, N-Type

Identifiers

PMID25706626
PMCPMC4605818
OpenAlexW2148977592

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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.