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

Henriet Springelkamp; Aniket Mishra; Pirro G. Hysi; Puya Gharahkhani; Rene Hoehn; 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; Andre 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; NEIGHBORHOOD Consortium

doi:10.1002/gepi.21886

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

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

Henriet Springelkamp, Aniket Mishra, Pirro G. Hysi, Puya Gharahkhani, Rene Hoehn, Chiea-Chuen Khor, Jessica N. Cooke Bailey, Xiaoyan Luo, Wishal D. Ramdas, Eranga Vithana, …

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

03/2015

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

PMID: 25631615

Abstract

Genetics & Heredity

Life Sciences & Biomedicine

Mathematical & Computational Biology

Science & Technology

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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Title: Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology
Creators: Henriet Springelkamp - Erasmus MC
Aniket Mishra - QIMR Berghofer Medical Research Institute
Pirro G. Hysi - King's College London
Puya Gharahkhani - QIMR Berghofer Medical Research Institute
Rene Hoehn - College Station Medical Center
Chiea-Chuen Khor - National University Health System
Jessica N. Cooke Bailey - Case Western Reserve University
Xiaoyan Luo - Duke University
Wishal D. Ramdas - Erasmus MC
Eranga Vithana - National University Health System
Victor Koh - National University Health System
Seyhan Yazar - Lions Eye Institute
Liang Xu - Capital Medical University
Hannah Forward - Lions Eye Institute
Lisa S. Kearns - Centre for Eye Research Australia
Najaf Amin - Erasmus MC
Adriana I. Iglesias - Erasmus MC
Kar-Seng Sim - Genome Institute of Singapore
Elisabeth M. van Leeuwen - Erasmus MC
Ayse Demirkan - Erasmus MC
Sven van der Lee - Erasmus MC
Seng-Chee Loon - Natl Univ Singapore, Dept Ophthalmol, Singapore 117548, Singapore
Fernando Rivadeneira - Erasmus MC
Abhishek Nag - King's College London
Paul G. Sanfilippo - University of Western Australia
Arne Schillert - German Centre for Cardiovascular Research
Paulus T. V. M. de Jong - Academic Medical Center
Ben A. Oostra - Erasmus MC
Andre G. Uitterlinden - Erasmus MC
Albert Hofman - Erasmus MC
Tiger Zhou - Flinders University
Kathryn P. Burdon - University of Tasmania
Timothy D. Spector - King's College London
Karl J. Lackner - Kantonsschule Olten
Seang-Mei Saw - Natl Univ Singapore, Dept Ophthalmol, Singapore 117548, Singapore
Johannes R. Vingerling - Erasmus MC
Yik-Ying Teo - Supreme Council Of Health
Louis R. Pasquale - Massachusetts Eye and Ear Infirmary
Roger C. W. Wolfs - Erasmus MC
Hans G. Lemij - Rotterdam Eye Hospital
E-Shyong Tai - National University Health System
Jost B. Jonas - Heidelberg University
Ching-Yu Cheng - Natl Univ Singapore, Dept Ophthalmol, Singapore 117548, Singapore
Tin Aung - National University Health System
Nomdo M. Jansonius - University Medical Center Groningen
Caroline C. W. Klaver - Erasmus MC
Jamie E. Craig - Flinders University
Terri L. Young - Duke University
Jonathan L. Haines - Case Western Reserve University
Stuart MacGregor - QIMR Berghofer Medical Research Institute
David A. Mackey - Lions Eye Institute
Norbert Pfeiffer - Johannes Gutenberg University Mainz
Tien-Yin Wong - Singapore Eye Research Institute
Janey L. Wiggs - Massachusetts Eye and Ear Infirmary
Alex W. Hewitt - University of Tasmania
Cornelia M. van Duijn - Erasmus MC
Christopher J. Hammond - King's College London
NEIGHBORHOOD Consortium
Publication Details: Genetic epidemiology, Vol.39(3), pp.207-216
Publisher: Wiley
Number of pages: 10
Date published: 03/2015
Grant note: SRF/01/010 / Department of Health; European Commission SRF/01/010 / National Institute for Health Research; National Institute for Health Research (NIHR) 1895/96 / Fight for Sight R01EY013178 / NATIONAL EYE INSTITUTE; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Eye Institute (NEI) R01 EY022305; P30 EY014104; R01 EY004859; R01 EY022306; R01 EY023754; R01 EY015473; R01 EY013178 / NEI NIH HHS; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Eye Institute (NEI)
Identifiers: 99928851602346
Academic Unit: Institute for Sustainability; Surrey Institute for People-Centred AI; School of Biosciences
Language: English
Resource Type: Journal article

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

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