Evidence map›Paper›PMID 28553957›Full record

SynthesisNature genetics2017

Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.

Tin Aung, Mineo Ozaki, Mei Chin Lee, Ursula Schlötzer-Schrehardt, Gudmar Thorleifsson, Takanori Mizoguchi, Robert P Igo, Aravind Haripriya, Susan E Williams, Yury S Astakhov and 279 more

Open access · greenAbstract readMeta-Analysis
PubMed Full text at PMC Publisher
In one paragraph

Synthesis in Nature genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 75 papers, 5 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
75citing papers in PubMed, 5 pooled it
7.1field-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

75 citing papers in PubMed, 5 syntheses or guidelines pooled it, 156 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Pooled it
  5. Pooled it
  6. Trial
  7. Review
  8. Article
  9. Special Issue "Advances in and Insights into the Treatment of Glaucoma".International journal of molecular sciences · 2025
    Article
  10. Review
  11. Article
  12. Observational
  13. Article
  14. Article
  15. Article
  16. Protein misfolding and mitochondrial dysfunction in glaucoma.Frontiers in cell and developmental biology · 2025
    Review
  17. Review
  18. Review
  19. Article
  20. Article

15 more citing papers are in PubMed but not listed here.

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

289 authors at 20 institutions in 38 countries.

Tin AungSingapore Eye Research Institute, Singapore.
Mineo OzakiOzaki Eye Hospital, Hyuga, Miyazaki, Japan.
Mei Chin LeeSingapore Eye Research Institute, Singapore.ORCID 0000-0001-7689-6446
Ursula Schlötzer-SchrehardtDepartment of Ophthalmology, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
Gudmar ThorleifssondeCODE Genetics, Reykjavik, Iceland.
Takanori MizoguchiMizoguchi Eye Hospital, Sasebo, Japan.
Robert P IgoDepartment of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, Ohio, USA.
Aravind HaripriyaAravind Eye Hospital, Madurai, India.
Susan E WilliamsDivision of Ophthalmology, University of the Witwatersrand, Johannesburg, South Africa.
Yury S AstakhovDepartment of Ophthalmology, Pavlov First Saint Petersburg State Medical University, St. Petersburg, Russia.
Andrew C OrrDepartment of Ophthalmology, Dalhousie University, Halifax, Nova Scotia, Canada.
Kathryn P BurdonDepartment of Ophthalmology, Flinders University, Adelaide, South Australia, Australia.ORCID 0000-0001-8217-1249
Satoko NakanoDepartment of Ophthalmology, Oita University Faculty of Medicine, Oita, Japan.
Kazuhiko MoriDepartment of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Khaled Abu-AmeroDepartment of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Michael HauserSingapore Eye Research Institute, Singapore.ORCID 0000-0003-2667-5420
Zheng LiGenome Institute of Singapore, Singapore.ORCID 0000-0002-7060-2213
Gopalakrishnan PrakadeeswariDepartment of Genetics, Aravind Medical Research Foundation, Madurai, India.
Jessica N Cooke BaileyDepartment of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, Ohio, USA.ORCID 0000-0002-4001-8702
Alina Popa Cherecheanu'Carol Davila' University of Medicine and Pharmacy, Bucharest, Romania.
Jae H KangChanning Division of Network Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.ORCID 0000-0003-4812-0557
Sarah NelsonDepartment of Biostatistics, University of Washington, Seattle, Washington, USA.ORCID 0000-0002-2109-6465
Ken HayashiHayashi Eye Hospital, Fukuoka, Japan.
Shin-Ichi ManabeHayashi Eye Hospital, Fukuoka, Japan.
Shigeyasu KazamaShinjo Eye Clinic, Miyazaki, Japan.
Tomasz ZarnowskiDepartment of Diagnostics and Microsurgery of Glaucoma, Medical University, Lublin, Poland.
Kenji InoueInoue Eye Hospital, Tokyo, Japan.
Murat IrkecDepartment of Ophthalmology, Hacettepe University, Faculty of Medicine, Ankara, Turkey.
Miguel Coca-PradosFernández-Vega University Institute and Foundation of Ophthalmological Research, University of Oviedo, Oviedo, Spain.
Kazuhisa SugiyamaDepartment of Ophthalmology, Kanazawa University Graduate School of Medical Science, Kanazawa, Japan.
Irma JärveläDepartment of Medical Genetics, University of Helsinki, Helsinki, Finland.
Patricio SchlottmannOrganización Médica de Investigación, Buenos Aires, Argentina.
S Fabian LernerFundación para el Estudio del Glaucoma, Buenos Aires, Argentina.
Hasnaa LamariClinique Spécialisée en Ophtalmologie Mohammedia, Mohammedia, Morocco.
Yildirim NilgünDepartment of Ophthalmology, Eskisehir Osmangazi University, Meselik, Eskisehir, Turkey.
Mukharram BikbovUfa Eye Research Institute, Ufa, Russia.ORCID 0000-0002-9476-8883
Ki Ho ParkDepartment of Ophthalmology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea.
Soon Cheol ChaDepartment of Ophthalmology, Yeungnam University College of Medicine, Daegu, Republic of Korea.
Kenji YamashiroDepartment of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan.ORCID 0000-0001-9354-8558
Juan C ZentenoGenetics Department, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico.
Jost B JonasDepartment of Ophthalmology, Medical Faculty Mannheim of the Ruprecht Karls University of Heidelberg, Mannheim, Germany.ORCID 0000-0003-2972-5227
Rajesh S KumarNarayana Nethralaya Eye Hospital, Bangalore, India.
Shamira A PereraSingapore Eye Research Institute, Singapore.
Anita S Y ChanSingapore Eye Research Institute, Singapore.
Nino KobakhidzeChichua Medical Center Mzera, LLC, Tbilisi, Georgia.
Ronnie GeorgeJadhavbhai Nathamal Singhvi Department of Glaucoma, Medical Research Foundation, Chennai, India.ORCID 0000-0001-7368-0252
Lingam VijayaJadhavbhai Nathamal Singhvi Department of Glaucoma, Medical Research Foundation, Chennai, India.
Tan DoVietnam National Institute of Ophthalmology, Hanoi, Vietnam.
Deepak P EdwardKing Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.
Lourdes de Juan MarcosDepartment of Ophthalmology, University Hospital of Salamanca, Salamanca, Spain.
Mohammad PakravanOphthalmic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Sasan MoghimiFarabi Eye Hospital, Tehran University Eye Research Center, Tehran University of Medical Sciences, Tehran, Iran.
Ryuichi IdetaIdeta Eye Hospital, Kumamoto City, Japan.
Daniella Bach-HolmEye Clinic, Rigshospitalet-Glostrup, Glostrup, Denmark.
Per KappelgaardEye Clinic, Rigshospitalet-Glostrup, Glostrup, Denmark.
Barbara WirostkoJohn A. Moran Eye Center, Department of Ophthalmology, University of Utah, Salt Lake City, Utah, USA.
Samuel ThomasJohn A. Moran Eye Center, Department of Ophthalmology, University of Utah, Salt Lake City, Utah, USA.
Daniel GastonDepartment of Pathology, Dalhousie University, Halifax, Nova Scotia, Canada.
Karen BedardDepartment of Pathology, Dalhousie University, Halifax, Nova Scotia, Canada.
Wenda L GreerDepartment of Pathology, Dalhousie University, Halifax, Nova Scotia, Canada.
Zhenglin YangSichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China.
Xueyi ChenDepartment of Ophthalmology, First Affiliated Hospital of Xinjiang Medical University, Urumchi, China.
Lulin HuangCenter for Human Molecular Biology and Genetics, Institute of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, Chengdu, China.
Jinghong SangBeijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Science Key Laboratory, Beijing, China.
Hongyan JiaBeijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Science Key Laboratory, Beijing, China.
Liyun JiaBeijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Science Key Laboratory, Beijing, China.
Chunyan QiaoBeijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Science Key Laboratory, Beijing, China.
Hui ZhangBeijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Science Key Laboratory, Beijing, China.
Xuyang LiuShenzhen Key Laboratory of Ophthalmology, Shenzhen Eye Hospital, Jinan University, Shenzhen, China.
Bowen ZhaoBeijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Science Key Laboratory, Beijing, China.
Ya-Xing WangBeijing Institute of Ophthalmology, Beijing Tongren Hospital, Capital Medical University, Beijing, China.
Liang XuBeijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Science Key Laboratory, Beijing, China.
Stéphanie LeruezDépartement d'Ophtalmologie, Centre Hospitalier Universitaire, Angers, France.
Pascal ReynierDépartement de Biochimie et Génétique, Centre Hospitalier Universitaire, Angers, France.
George ChichuaChichua Medical Center Mzera, LLC, Tbilisi, Georgia.
Sergo TabagariDavid Tvildiani Medical University, Tbilisi, Georgia.
Steffen UebeInstitute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
Matthias ZenkelDepartment of Ophthalmology, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
Daniel BernerDepartment of Ophthalmology, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
Georg MossböckDepartment of Ophthalmology, Medical University Graz, Graz, Austria.
Nicole WeisschuhInstitute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.
Ursula HojaDepartment of Ophthalmology, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
Ulrich-Christoph Welge-LuessenDepartment of Ophthalmology, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
Christian MardinDepartment of Ophthalmology, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
Panayiota FountiDepartment of Ophthalmology, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Anthi ChatzikyriakidouLaboratory of General Biology, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Theofanis PappasDepartment of Ophthalmology, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Eleftherios AnastasopoulosDepartment of Ophthalmology, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Alexandros LambropoulosLaboratory of General Biology, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Arkasubhra GhoshGROW Research Laboratory, Narayana Nethralaya Foundation, Bangalore, India.ORCID 0000-0002-6570-5891
Rohit ShettyNarayana Nethralaya Eye Hospital, Bangalore, India.
Natalia PorporatoSanta Lucia Eye Hospital from Buenos Aires, Buenos Aires, Argentina.
Vijayan SaravananDepartment of Genetics, Aravind Medical Research Foundation, Madurai, India.
Rengaraj VenkateshAravind Eye Hospital, Pondicherry, India.
Chandrashekaran ShivkumarAravind Eye Hospital, Tirunelveli, India.
Narendran KalpanaAravind Eye Hospital, Coimbatore, India.
Sripriya SarangapaniVision Research Foundation, Chennai, India.
Mozhgan R KanaviOcular Tissue Engineering Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Afsaneh Naderi BeniOphthalmic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Shahin YazdaniOphthalmic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Alireza LashayFarabi Eye Hospital, Tehran University Eye Research Center, Tehran University of Medical Sciences, Tehran, Iran.
Homa NaderifarFarabi Eye Hospital, Tehran University Eye Research Center, Tehran University of Medical Sciences, Tehran, Iran.
Nassim KhatibiFarabi Eye Hospital, Tehran University Eye Research Center, Tehran University of Medical Sciences, Tehran, Iran.
Antonio FeaDipartimento di Scienze Chirurgiche, Università di Torino, Turin, Italy.
Carlo LaviaDipartimento di Scienze Chirurgiche, Università di Torino, Turin, Italy.
Laura DallortoDipartimento di Scienze Chirurgiche, Università di Torino, Turin, Italy.
Teresa RolleDipartimento di Scienze Chirurgiche, Università di Torino, Turin, Italy.
Paolo FrezzottiOphthalmology Unit, Department of Medicine, Surgery and Neuroscience, University of Siena, Siena, Italy.
Daniela PaoliDepartment of Ophthalmology, Monfalcone Hospital, Gorizia, Italy.
Erika SalviDepartment of Health Sciences, University of Milan, Milan, Italy.
Paolo ManuntaDepartment of Nephrology, University Vita-Salute San Raffaele, Milan, Italy.
Yosai MoriMiyata Eye Hospital, Miyazaki, Japan.
Kazunori MiyataMiyata Eye Hospital, Miyazaki, Japan.
Tomomi HigashideDepartment of Ophthalmology, Kanazawa University Graduate School of Medical Science, Kanazawa, Japan.
Etsuo ChiharaSensho-kai Eye Institute, Kyoto, 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 Sciences, Hiroshima University, Hiroshima, Japan.
Yoshiaki KiuchiDepartment of Ophthalmology and Visual Sciences, Hiroshima University, Hiroshima, 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.
Makoto AiharaDepartment of Ophthalmology, University of Tokyo, Tokyo, Japan.
Masaru InataniDepartment of Ophthalmology, Faculty of Medical Science, University of Fukui, Fukui, Japan.
Masahiro MiyakeDepartment of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Norimoto GotohCenter for Genomic Medicine, INSERM U852, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Fumihiko MatsudaCenter for Genomic Medicine, INSERM U852, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Nagahisa YoshimuraDepartment of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Yoko IkedaDepartment of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Morio UenoDepartment of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Chie SotozonoDepartment of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Jin Wook JeoungDepartment of Ophthalmology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea.
Min SagongDepartment of Ophthalmology, Yeungnam University College of Medicine, Daegu, Republic of Korea.
Kyu Hyung ParkDepartment of Ophthalmology, Seoul National University Bundang Hospital, Gyeonggi, Republic of Korea.
Jeeyun AhnDepartment of Ophthalmology, Seoul Metropolitan Government Seoul National University Boramae Medical Center, Seoul, Republic of Korea.
Marisa Cruz-AguilarGenetics Department, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico.
Sidi M EzzouhairiClinique Spécialisée en Ophtalmologie Mohammedia, Mohammedia, Morocco.
Abderrahman RafeiLaboratoires RAFEI, Mohammedia, Morocco.
Yaan Fun ChongSingapore Eye Research Institute, Singapore.
Xiao Yu NgSingapore Eye Research Institute, Singapore.
Shuang Ru GohSingapore Eye Research Institute, Singapore.
Yueming ChenSingapore Eye Research Institute, Singapore.
Victor H K YongSingapore Eye Research Institute, Singapore.
Muhammad Imran KhanDepartment of Human Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands.
Olusola O OlawoyeDepartment of Ophthalmology, College of Medicine, University of Ibadan, Ibadan, Nigeria.
Adeyinka O AshayeDepartment of Ophthalmology, College of Medicine, University of Ibadan, Ibadan, Nigeria.
Idakwo UgbedeECWA Eye Hospital, Kano, Nigeria.
Adeola OnakoyaDepartment of Ophthalmology, University of Lagos, Lagos, Nigeria.
Nkiru Kizor-AkaraiweDepartment of Ophthalmology, ESUT Teaching Hospital Parklane, Enugu, Nigeria.
Chaiwat TeekhasaeneeDepartment of Ophthalmology, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Yanin SuwanDepartment of Ophthalmology, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Wasu SupakontanasanDepartment of Ophthalmology, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Suhanya OkekeDepartment of Ophthalmology, ESUT Teaching Hospital Parklane, Enugu, Nigeria.
Nkechi J UcheEye Specialists Hospital, Enugu, Nigeria.
Ifeoma AsimaduDepartment of Ophthalmology, ESUT Teaching Hospital Parklane, Enugu, Nigeria.
Humaira AyubDepartment of Environmental Sciences, COMSATS Institute of Information Technology, Abbottabad, Pakistan.
Farah AkhtarPakistan Institute of Ophthalmology, Al-Shifa Trust Eye Hospital, Rawalpindi, Pakistan.
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.
Ignacio LischinskyCentro Oftalmologico Lischinsky, Tucumán, Argentina.
Vania CastroUniversidad Peruana Cayetano Heredia, Hospital Nacional Arzobispo Loayza, Lima, Peru.
Rodolfo Perez GrossmannInstituto de Glaucoma y Catarata, Lima, Peru.
Gordana Sunaric MegevandClinical Research Centre Adolphe de Rothschild, Société Médicale de Beaulieu, Geneva, Switzerland.
Sylvain RoyClinical Research Centre Adolphe de Rothschild, Société Médicale de Beaulieu, Geneva, Switzerland.
Edward DervanMater Misericordiae University Hospital, Dublin, Ireland.
Eoin SilkeMater Misericordiae University Hospital, Dublin, Ireland.
Aparna RaoShri Mithu Tulsi, LV Prasad Eye Institute, Bhubaneswar, India.
Priti SahayShri Mithu Tulsi, LV Prasad Eye Institute, Bhubaneswar, India.
Pablo ForneroHospital Córdoba, Córdoba, Argentina.
Osvaldo CuelloHospital Córdoba, Córdoba, Argentina.
Delia SivoriFundación para el Estudio del Glaucoma, Buenos Aires, Argentina.
Tamara ZompaCentro Oftalmologico Charles, Buenos Aires, Argentina.
Richard A MillsDepartment of Ophthalmology, Flinders University, Adelaide, South Australia, Australia.
Emmanuelle SouzeauDepartment of Ophthalmology, Flinders University, Adelaide, South Australia, Australia.
Paul MitchellCentre for Vision Research, Department of Ophthalmology and Westmead Institute for Medical Research, University of Sydney, Sydney, New South Wales, Australia.
Jie Jin WangCentre for Vision Research, Department of Ophthalmology and Westmead Institute for Medical Research, University of Sydney, Sydney, New South Wales, Australia.
Alex W HewittMenzies Institute for Medical Research, University of Tasmania, Hobart, Tasmania, Australia.
Michael CooteCentre for Eye Research Australia (CERA), University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia.
Jonathan G CrowstonCentre for Eye Research Australia (CERA), University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia.
Sergei Y AstakhovDepartment of Ophthalmology, Pavlov First Saint Petersburg State Medical University, St. Petersburg, Russia.
Eugeny L AkopovDepartment of Ophthalmology, Pavlov First Saint Petersburg State Medical University, St. Petersburg, Russia.
Anton EmelyanovDepartment of Ophthalmology, Pavlov First Saint Petersburg State Medical University, St. Petersburg, Russia.
Vera VysochinskayaSt. Petersburg Academic University, St. Petersburg, Russia.
Gyulli KazakbaevaUfa Eye Research Institute, Ufa, Russia.ORCID 0000-0002-0569-1264
Rinat FayzrakhmanovUfa Eye Research Institute, Ufa, Russia.
Saleh A Al-ObeidanDepartment of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Ohoud OwaidhahKing Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.
Leyla Ali AljasimKing Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.
Balram ChowbayClinical Pharmacology, SingHealth, Singapore.
Jia Nee FooGenome Institute of Singapore, Singapore.ORCID 0000-0001-9899-2308
Raphael Q SohGenome Institute of Singapore, Singapore.
Kar Seng SimGenome Institute of Singapore, Singapore.ORCID 0000-0002-3822-7759
Zhicheng XieGenome Institute of Singapore, Singapore.
Augustine W O CheongGenome Institute of Singapore, Singapore.
Shi Qi MokGenome Institute of Singapore, Singapore.
Hui Meng SooGenome Institute of Singapore, Singapore.
Xiao Yin ChenGenome Institute of Singapore, Singapore.
Su Qin PehGenome Institute of Singapore, Singapore.
Khai Koon HengGenome Institute of Singapore, Singapore.
Rahat HusainSingapore National Eye Center, Singapore.
Su-Ling HoDepartment of Ophthalmology, Tan Tock Seng Hospital, Singapore.
Axel M HillmerGenome Institute of Singapore, Singapore.ORCID 0000-0002-3381-7266
Ching-Yu ChengSingapore Eye Research Institute, Singapore.
Francisco A Escudero-DomínguezDepartment of Ophthalmology, University Hospital of Salamanca, Salamanca, Spain.
Rogelio González-SarmientoInstitute for Biomedical Research of Salamanca (IBSAL), Salamanca, Spain.
Frederico Martinon-TorresTranslational Pediatrics and Infectious Diseases, Hospital Clínico Universitario de Santiago, Santiago de Compostela, Spain.ORCID 0000-0002-9023-581X
Antonio SalasUnidade de Xenética, Departamento de Anatomía Patolóxica e Ciencias Forenses, Instituto de Ciencias Forenses, Facultade de Medicina, Universidade de Santiago de Compostela, Santiago de Compostela, Spain.
Kessara PathanapitoonDepartment of Ophthalmology, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand.
Linda HansapinyoDepartment of Ophthalmology, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand.
Boonsong WanichwecharugruangDepartment of Ophthalmology, Rajavithi Hospital, Bangkok, Thailand.
Naris KitnarongDepartment of Ophthalmology, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Anavaj SakuntabhaiInstitut Pasteur, Functional Genetics of Infectious Diseases Unit, Department of Genomes and Genetics, Paris, France.ORCID 0000-0001-9099-6937
Hip X NguynVietnam National Institute of Ophthalmology, Hanoi, Vietnam.
Giang T T NguynVietnam National Institute of Ophthalmology, Hanoi, Vietnam.ORCID 0000-0001-6721-6285
Trình V NguynVietnam National Institute of Ophthalmology, Hanoi, Vietnam.
Werner ZenzDepartment of General Pediatrics, Medical University of Graz, Graz, Austria.
Alexander BinderDepartment of General Pediatrics, Medical University of Graz, Graz, Austria.
Daniela S KlobassaDepartment of General Pediatrics, Medical University of Graz, Graz, Austria.
Martin L HibberdGenome Institute of Singapore, Singapore.
Sonia DavilaGenome Institute of Singapore, Singapore.
Stefan HermsDepartment of Genomics, Life &Brain Center, University of Bonn, Bonn, Germany.
Markus M NöthenDepartment of Genomics, Life &Brain Center, University of Bonn, Bonn, Germany.
Susanne MoebusInstitute for Medical Informatics, Biometry and Epidemiology, University Hospital of Essen, University Duisburg-Essen, Essen, Germany.
Robyn M RautenbachDivision of Ophthalmology, Stellenbosch University and Tygerberg Hospital, Cape Town, South Africa.
Ari ZiskindDivision of Ophthalmology, Stellenbosch University and Tygerberg Hospital, Cape Town, South Africa.
Trevor R CarmichaelDivision of Ophthalmology, University of the Witwatersrand, Johannesburg, South Africa.
Michele RamsaySydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
Lydia ÁlvarezFernández-Vega University Institute and Foundation of Ophthalmological Research, University of Oviedo, Oviedo, Spain.
Montserrat GarcíaFernández-Vega University Institute and Foundation of Ophthalmological Research, University of Oviedo, Oviedo, Spain.
Héctor González-IglesiasFernández-Vega University Institute and Foundation of Ophthalmological Research, University of Oviedo, Oviedo, Spain.
Pedro P Rodríguez-CalvoFernández-Vega University Institute and Foundation of Ophthalmological Research, University of Oviedo, Oviedo, Spain.
Luis Fernández-Vega Cueto *Fernández-Vega University Institute and Foundation of Ophthalmological Research, University of Oviedo, Oviedo, Spain.
Çilingir OguzDepartment of Genetics, Eskisehir Osmangazi University, Meselik, Eskisehir, Turkey.
Nevbahar TamcelikIstanbul University Cerrahpasa Faculty of Medicine, Istanbul, Turkey.
Eray AtalaySingapore Eye Research Institute, Singapore.ORCID 0000-0002-2536-4279
Bilge BatuIstanbul University Cerrahpasa Faculty of Medicine, Istanbul, Turkey.
Dilek AktasDAMAGEN Genetic Diagnostic Center, Ankara, Turkey.
Burcu KasımDepartment of Ophthalmology, Hacettepe University, Faculty of Medicine, Ankara, Turkey.
M Roy WilsonSchool of Medicine, Wayne State University, Detroit, Michigan, USA.
Anne L ColemanCenter for Community Outreach and Policy, Stein Eye Institute, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.ORCID 0000-0002-0807-5176
Yutao LiuDepartment of Cellular Biology and Anatomy, Center for Biotechnology and Genomic Medicine, James and Jean Culver Discovery Institute, Augusta University, Augusta, Georgia, USA.
Pratap ChallaDepartment of Ophthalmology, Duke University Eye Center, Durham, North Carolina, USA.
Leon HerndonDepartment of Ophthalmology, Duke University Eye Center, Durham, North Carolina, USA.
Rachel W KuchteyVanderbilt Eye Institute, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
John KuchteyVanderbilt Eye Institute, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Karen CurtinJohn A. Moran Eye Center, Department of Ophthalmology, University of Utah, Salt Lake City, Utah, USA.
Craig J ChayaJohn A. Moran Eye Center, Department of Ophthalmology, University of Utah, Salt Lake City, Utah, USA.
Alan CrandallJohn A. Moran Eye Center, Department of Ophthalmology, University of Utah, Salt Lake City, Utah, USA.
Linda M ZangwillHamilton Glaucoma Center, Department of Ophthalmology and Shiley Eye Institute, University of California, San Diego, San Diego, California, USA.
Tien Yin WongSingapore Eye Research Institute, Singapore.
Masakazu NakanoDepartment of Genomic Medical Sciences, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Shigeru KinoshitaDepartment of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Anneke I den HollanderDepartment of Human Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands.
Eija VestiDepartment of Ophthalmology, University of Turku and Turku University Hospital, Turku, Finland.
John H FingertInstitute for Vision Research, University of Iowa, Iowa City, Iowa, USA.
Richard K LeeBascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, Florida, USA.
Arthur J SitDepartment of Ophthalmology, Mayo Clinic, Rochester, Minnesota, USA.
Bradford J ShingletonOphthalmic Consultants of Boston, Boston, Massachusetts, USA.
Ningli WangBeijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Science Key Laboratory, Beijing, China.
Daniele CusiInstitute of Biomedical Technologies, Italian National Research Centre (ITB-CNR), Segrate-Milano, Italy.
Raheel QamarDepartment of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan.ORCID 0000-0002-1158-6698
Peter KraftDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, Massachusetts, USA.
Margaret A Pericak-VanceJohn P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA.
Soumya RaychaudhuriDivisions of Genetics and Rheumatology, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
Steffen HeegaardDepartment of Ophthalmology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
Tero KiveläDepartment of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
André ReisDavid Tvildiani Medical University, Tbilisi, Georgia.ORCID 0000-0002-6301-6363
Friedrich E KruseDepartment of Ophthalmology, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
Robert N WeinrebHamilton Glaucoma Center, Department of Ophthalmology and Shiley Eye Institute, University of California, San Diego, San Diego, California, USA.
Louis R PasqualeChanning Division of Network Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Jonathan L HainesDepartment of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, Ohio, USA.ORCID 0000-0002-4351-4728
Unnur ThorsteinsdottirdeCODE Genetics, Reykjavik, Iceland.
Fridbert JonassonFaculty of Medicine, University of Iceland, Reykjavik, Iceland.
R Rand AllinghamSingapore Eye Research Institute, Singapore.
Dan MileaSingapore Eye Research Institute, Singapore.
Robert RitchEinhorn Clinical Research Center, New York Eye and Ear Infirmary of Mount Sinai, New York, New York, USA.ORCID 0000-0002-9368-7547
Toshiaki KubotaDepartment of Ophthalmology, Oita University Faculty of Medicine, Oita, Japan.ORCID 0000-0001-6177-549X
Kei TashiroDepartment of Genomic Medical Sciences, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Eranga N VithanaSingapore Eye Research Institute, Singapore.
Shazia MichealDepartment of Ophthalmology, Radboud University Medical Centre, Nijmegen, the Netherlands.
Fotis TopouzisDepartment of Ophthalmology, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Jamie E CraigDepartment of Ophthalmology, Flinders University, Adelaide, South Australia, Australia.
Michael DubinaDepartment of Ophthalmology, Pavlov First Saint Petersburg State Medical University, St. Petersburg, Russia.ORCID 0000-0002-6606-3309
Periasamy SundaresanDr. G.Venkataswamy Eye Research Institute, Aravind Medical Research Foundation, Aravind Eye Hospital, Madurai, India.
Kari StefanssondeCODE Genetics, Reykjavik, Iceland.
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, Germany.
Chiea Chuen KhorSingapore Eye Research Institute, Singapore.ORCID 0000-0002-1128-4729
Genome Institute of Singapore · SGBeijing Tongren Hospital · CNFriedrich-Alexander-Universität Erlangen-Nürnberg · DEKyoto Prefectural University of Medicine · JPAristotle University of Thessaloniki · GRSingapore Eye Research Institute · SGUniversidad de Oviedo · ESAravind Eye Hospital · INKyoto University · JPNational University of Singapore · SGUniversity of Utah · USDalhousie University · CADuke University · USFarabi Hospital · IRMedical University of Graz · ATShahid Beheshti University of Medical Sciences · IRSingapore National Eye Center · SGUniversity of Turin · ITVietnam National Children's Hospital · VNCase Western Reserve University · US

Funding

Long Term Multidisciplinary Study of Cancer in Women: The Nurses Health StudyUM1CA186107 · NCI · BRIGHAM AND WOMEN'S HOSPITAL · PI ELIASSEN, A. HEATHER, STAMPFER, MEIR · 2014 to 2023
$22.3M
P30 Core Grant for Vision ResearchP30EY014104 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI Eric A Pierce · 2002 to 2026
$15.1M
BIOCHEMICAL MARKERS IN THE NURSES'HEALTH STUDY COHORTR01CA049449 · NCI · BRIGHAM AND WOMEN'S HOSPITAL · PI HANKINSON, SUSAN E · 1989 to 2008
$11.3M
Gene-Environment Interactions in GlaucomaR01EY015473 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI PASQUALE, LOUIS ROBERT · 2005 to 2021
$8.3M
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
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
NCI NIH HHS R01 CA049449NCI NIH HHS UM1 CA186107NEI NIH HHS P30 EY014104NEI NIH HHS R01 EY013882NEI NIH HHS R01 EY015473NEI NIH HHS R01 EY020928NEI NIH HHS R01 EY023512NHLBI NIH HHS HHSN268201200008CNHLBI NIH HHS HHSN268201200008I
6 · The paper itself

Abstract

Exfoliation syndrome (XFS) is the most common known risk factor for secondary glaucoma and a major cause of blindness worldwide. Variants in two genes, LOXL1 and CACNA1A, have previously been associated with XFS. To further elucidate the genetic basis of XFS, we collected a global sample of XFS cases to refine the association at LOXL1, which previously showed inconsistent results across populations, and to identify new variants associated with XFS. We identified a rare protective allele at LOXL1 (p.Phe407, odds ratio (OR) = 25, P = 2.9 × 10

Indexed as

Genome-Wide Association StudyMutation, MissensePoint MutationAged, 80 and overAllelesAmino Acid OxidoreductasesAmino Acid SubstitutionAsian PeopleCalcium ChannelsCalcium Channels, N-TypeCell AdhesionExfoliation SyndromeExtracellular MatrixEyeFemaleGene Expression ProfilingAmino Acid OxidoreductasesCACNA1A protein, humanCalcium ChannelsCalcium Channels, N-TypeLOXL1 protein, humanMolecular Chaperonesproteasome maturation proteinRNA, Messenger

Identifiers

PMID28553957
PMCPMC6685441
OpenAlexW2617037207

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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.