Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology

Henriët Springelkamp; Aniket Mishra; Pirro G Hysi; Puya Gharahkhani; René Höhn; Chiea-Chuen Khor; Jessica N Cooke Bailey; Xiaoyan Luo; Wishal D Ramdas; Eranga Vithana; Victor Koh; Seyhan Yazar; Liang Xu; Hannah Forward; Lisa S Kearns; Najaf Amin; Adriana I Iglesias; Kar-Seng Sim; Elisabeth M van Leeuwen; Ayse Demirkan; Sven van der Lee; Seng-Chee Loon; Fernando Rivadeneira; Abhishek Nag; Paul G Sanfilippo; Arne Schillert; Paulus T. V. M de Jong; Ben A Oostra; André G Uitterlinden; Albert Hofman; Tiger Zhou; Kathryn P Burdon; Timothy D Spector; Karl J Lackner; Seang-Mei Saw; Johannes R Vingerling; Yik-Ying Teo; Louis R Pasquale; Roger C. W Wolfs; Hans G Lemij; E-Shyong Tai; Jost B Jonas; Ching-Yu Cheng; Tin Aung; Nomdo M Jansonius; Caroline C. W Klaver; Jamie E Craig; Terri L Young; Jonathan L Haines; Stuart MacGregor; David A Mackey; Norbert Pfeiffer; Tien-Yin Wong; Janey L Wiggs; Alex W Hewitt; Cornelia M van Duijn; Christopher J Hammond

doi:10.1002/gepi.21886

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Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology

Journal article

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Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology

Henriët Springelkamp, Aniket Mishra, Pirro G Hysi, Puya Gharahkhani, René Höhn, Chiea-Chuen Khor, Jessica N Cooke Bailey, Xiaoyan Luo, Wishal D Ramdas, Eranga Vithana, …

Genetic epidemiology, Vol.39(3), pp.207-216

2015-03

DOI: https://doi.org/10.1002/gepi.21886

PMCID: PMC4480365

PMID: 25631615

Abstract

GWAS

cup area

disc area

glaucoma

Primary open-angle glaucoma is the most common optic neuropathy and an important cause of irreversible blindness worldwide. The optic nerve head or optic disc is divided in two parts: a central cup (without nerve fibers) surrounded by the neuroretinal rim (containing axons of the retinal ganglion cells). The International Glaucoma Genetics Consortium conducted a meta-analysis of genome-wide association studies consisting of 17,248 individuals of European ancestry and 6,841 individuals of Asian ancestry. The outcomes of the genome-wide association studies were disc area and cup area. These specific measurements describe optic nerve morphology in another way than the vertical cup-disc ratio, which is a clinically used measurement, and may shed light on new glaucoma mechanisms. We identified 10 new loci associated with disc area ( CDC42BPA , F5 , DIRC3 , RARB , ABI3BP , DCAF4L2 , ELP4 , TMTC2 , NR2F2 , and HORMAD2 ) and another 10 new loci associated with cup area ( DHRS3 , TRIB2 , EFEMP1 , FLNB , FAM101 , DDHD1 , ASB7 , KPNB1 , BCAS3 , and TRIOBP ). The new genes participate in a number of pathways and future work is likely to identify more functions related to the pathogenesis of glaucoma.

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Collaboration types: Domestic collaboration; International collaboration
Citation topics: 1 Clinical & Life Sciences; 1.36 Ophthalmology; 1.36.226 Glaucoma
Web Of Science research areas: Genetics & Heredity; Mathematical & Computational Biology
ESI research areas: Molecular Biology & Genetics

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Title: Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology
Creators: Henriët Springelkamp - Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands
Aniket Mishra - Statistical Genetics, QIMR Berghofer Medical Research Institute, Royal Brisbane Hospital, Brisbane, Australia
Pirro G Hysi - Department of Twin Research and Genetic Epidemiology, King’s College London, London, United Kingdom
Puya Gharahkhani - Statistical Genetics, QIMR Berghofer Medical Research Institute, Royal Brisbane Hospital, Brisbane, Australia
René Höhn - Department of Ophthalmology, University Medical Center Mainz, Mainz, Germany
Chiea-Chuen Khor - Department of Ophthalmology, National University of Singapore and National University Health System, Singapore, Singapore
Jessica N Cooke Bailey - Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio, United States of America
Xiaoyan Luo - Duke University Eye Center, Durham, North Carolina, United States of America
Wishal D Ramdas - Department of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands
Eranga Vithana - Department of Ophthalmology, National University of Singapore and National University Health System, Singapore, Singapore
Victor Koh - Department of Ophthalmology, National University of Singapore and National University Health System, Singapore, Singapore
Seyhan Yazar - Centre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, Australia
Liang Xu - Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing, China
Hannah Forward - Centre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, Australia
Lisa S Kearns - Centre for Eye Research Australia (CERA), University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia
Najaf Amin - Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands
Adriana I Iglesias - Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands
Kar-Seng Sim - Division of Human Genetics, Genome Institute of Singapore, Singapore, Singapore
Elisabeth M van Leeuwen - Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands
Ayse Demirkan - Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands
Sven van der Lee - Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands
Seng-Chee Loon - Department of Ophthalmology, National University of Singapore and National University Health System, Singapore, Singapore
Fernando Rivadeneira - Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands
Abhishek Nag - Department of Twin Research and Genetic Epidemiology, King’s College London, London, United Kingdom
Paul G Sanfilippo - Centre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, Australia
Arne Schillert - DZHK (German Centre for Cardiovascular Research), partner site Hamburg/Kiel/Lübeck, Lübeck, Germany
Paulus T. V. M de Jong - Department of Ophthalmology, Academic Medical Center, Amsterdam, the Netherlands
Ben A Oostra - Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands
André G Uitterlinden - Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands
Albert Hofman - Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands
Tiger Zhou - Department of Ophthalmology, Flinders University, Adelaide, Australia
Kathryn P Burdon - School of Medicine, Menzies Research Institute Tasmania, University of Tasmania, Hobart, Australia
Timothy D Spector - Department of Twin Research and Genetic Epidemiology, King’s College London, London, United Kingdom
Karl J Lackner - Klinik Pallas Olten, Olten, Switzerland
Seang-Mei Saw - Department of Ophthalmology, National University of Singapore and National University Health System, Singapore, Singapore
Johannes R Vingerling - Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands
Yik-Ying Teo - Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore, Singapore
Louis R Pasquale - Channing Division of Network Medicine, Brigham and Women’s Hospital, Boston, Massachusetts, United States of America
Roger C. W Wolfs - Department of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands
Hans G Lemij - Glaucoma Service, The Rotterdam Eye Hospital, Rotterdam, the Netherlands
E-Shyong Tai - Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore, Singapore
Jost B Jonas - Department of Ophthalmology, Medical Faculty Mannheim of the Ruprecht-Karls-University of Heidelberg, Heidelberg, Germany
Ching-Yu Cheng - Department of Ophthalmology, National University of Singapore and National University Health System, Singapore, Singapore
Tin Aung - Department of Ophthalmology, National University of Singapore and National University Health System, Singapore, Singapore
Nomdo M Jansonius - Department of Ophthalmology, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands
Caroline C. W Klaver - Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands
Jamie E Craig - Department of Ophthalmology, Flinders University, Adelaide, Australia
Terri L Young - Duke University Eye Center, Durham, North Carolina, United States of America
Jonathan L Haines - Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio, United States of America
Stuart MacGregor - Statistical Genetics, QIMR Berghofer Medical Research Institute, Royal Brisbane Hospital, Brisbane, Australia
David A Mackey - Centre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, Australia
Norbert Pfeiffer - Department of Ophthalmology, University Medical Center Mainz, Mainz, Germany
Tien-Yin Wong - Department of Ophthalmology, National University of Singapore and National University Health System, Singapore, Singapore
Janey L Wiggs - Department of Ophthalmology, Harvard Medical School and Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, United States of America
Alex W Hewitt - Centre for Eye Research Australia (CERA), University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia
Cornelia M van Duijn - Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands
Christopher J Hammond - Department of Twin Research and Genetic Epidemiology, King’s College London, London, United Kingdom
Publication Details: Genetic epidemiology, Vol.39(3), pp.207-216
Language: English
Resource Type: Journal article
PMID: 25631615
PMCID: PMC4480365
Record Identifier: 991031576337402976