Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus

Peter Donnelly; Amy Strange; Celine Bellenguez; Xueling Sim; Robert Luben; Pirro G. Hysi; Wishal D. Ramdas; Leonieke M. E. van Koolwijk; Colin Freeman; Matti Pirinen; Zhan Su; Gavin Band; Richard Pearson; Damjan Vukcevic; Cordelia Langford; Panos Deloukas; Sarah Hunt; Emma Gray; Serge Dronov; Simon C. Potter; Avazeh Tashakkori-Ghanbaria; Sarah Edkins; Suzannah J. Bumpstead; Jenefer M. Blackwell; Elvira Bramon; Matthew A. Brown; Juan P. Casas; Aiden Corvin; Audrey Duncanson; Janusz A. Z. Jankowski; Hugh S. Markus; Christopher G. Mathew; Colin N. A. Palmer; Robert Plomin; Anna Rautanen; Stephen J. Sawcer; Nicholas W. Wood; Richard C. Trembath; Ines Barroso; Leena Peltonen; Paul Healey; Peter McGuffin; Fotis Topouzis; Caroline C. W. Klaver; Cornelia M. van Duijn; David A. Mackey; Terri L. Young; Christopher J. Hammond; Kay-Tee Khaw; Nick Wareham; Jie Jin Wang; Tien Y. Wong; Paul J. Foster; Paul Mitchell; Chris C. A. Spencer; Ananth C. Viswanathan; BMES

doi:10.1093/hmg/ddt293

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Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus

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Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus

Peter Donnelly, Amy Strange, Celine Bellenguez, Xueling Sim, Robert Luben, Pirro G. Hysi, Wishal D. Ramdas, Leonieke M. E. van Koolwijk, Colin Freeman, Matti Pirinen, …

Human molecular genetics, Vol.22(22), pp.4653-4660

15/11/2013

DOI: https://doi.org/10.1093/hmg/ddt293

PMCID: PMC3904806

PMID: 23836780

Abstract

Biochemistry & Molecular Biology

Genetics & Heredity

Life Sciences & Biomedicine

Science & Technology

To discover quantitative trait loci for intraocular pressure, a major risk factor for glaucoma and the only modifiable one, we performed a genome-wide association study on a discovery cohort of 2175 individuals from Sydney, Australia. We found a novel association between intraocular pressure and a common variant at 7p21 near to GLCCI1 and ICA1. The findings in this region were confirmed through two UK replication cohorts totalling 4866 individuals (rs59072263, P-combined 1.10 10(8)). A copy of the G allele at this SNP is associated with an increase in mean IOP of 0.45 mmHg (95CI 0.300.61 mmHg). These results lend support to the implication of vesicle trafficking and glucocorticoid inducibility pathways in the determination of intraocular pressure and in the pathogenesis of primary open-angle glaucoma.

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Title: Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus
Creators - without role: Peter Donnelly - University of Oxford
Amy Strange - University of Oxford
Celine Bellenguez - University of Oxford
Xueling Sim - Natl Univ Singapore, Singapore, Singapore
Robert Luben - University of Cambridge
Pirro G. Hysi - Kings Coll London, St Thomas Hosp, Dept Twin Res & Genet Epidemiol, London, England
Wishal D. Ramdas - Erasmus MC
Leonieke M. E. van Koolwijk - Rotterdam Eye Hosp Glaucoma Serv, Rotterdam, Netherlands
Colin Freeman - University of Oxford
Matti Pirinen - University of Oxford
Zhan Su - University of Oxford
Gavin Band - University of Oxford
Richard Pearson - University of Oxford
Damjan Vukcevic - University of Oxford
Cordelia Langford - Wellcome Sanger Institute
Panos Deloukas - Wellcome Sanger Institute
Sarah Hunt - Wellcome Sanger Institute
Emma Gray - Wellcome Sanger Institute
Serge Dronov - Wellcome Sanger Institute
Simon C. Potter - Wellcome Sanger Institute
Avazeh Tashakkori-Ghanbaria - Wellcome Sanger Institute
Sarah Edkins - Wellcome Sanger Institute
Suzannah J. Bumpstead - Wellcome Sanger Institute
Jenefer M. Blackwell - University of Western Australia
Elvira Bramon - CognIT
Matthew A. Brown - University of Queensland
Juan P. Casas - Supreme Council Of Health
Aiden Corvin - College Station Medical Center
Audrey Duncanson - Wellcome Trust
Janusz A. Z. Jankowski - Queen Mary University of London
Hugh S. Markus - University of London
Christopher G. Mathew - College Station Medical Center
Colin N. A. Palmer - Supreme Council Of Health
Robert Plomin - Massachusetts Rehabilitation Commission
Anna Rautanen - University of Oxford
Stephen J. Sawcer - University of Cambridge
Nicholas W. Wood - UCL, Inst Neurol, Dept Mol Neurosci, Queen Sq, London WC1N 3BG, England
Richard C. Trembath - College Station Medical Center
Ines Barroso - Wellcome Sanger Institute
Leena Peltonen - Wellcome Sanger Institute
Paul Healey - University of Sydney
Peter McGuffin - Massachusetts Rehabilitation Commission
Fotis Topouzis - Aristotle University of Thessaloniki
Caroline C. W. Klaver
Cornelia M. van Duijn
David A. Mackey - University of Western Australia
Terri L. Young - Duke University
Christopher J. Hammond
Kay-Tee Khaw
Nick Wareham - Massachusetts Rehabilitation Commission
Jie Jin Wang - University of Melbourne
Tien Y. Wong - Natl Univ Singapore, Dept Epidemiol & Publ Hlth, Singapore, Singapore
Paul J. Foster - Moorfields Eye Hosp NHS Fdn Trust, NIHR Biomed Res Ctr, London EC1V 2PD, England
Paul Mitchell - University of Sydney
Chris C. A. Spencer - University of Oxford
Peter Donnelly - University of Oxford
Ananth C. Viswanathan - Moorfields Eye Hosp NHS Fdn Trust, NIHR Biomed Res Ctr, London EC1V 2PD, England
BMES
Publication Details: Human molecular genetics, Vol.22(22), pp.4653-4660
Publisher: Oxford Univ Press
Number of pages: 8
Grant note: 097364/Z/11/Z / Wellcome Trust 095552/Z/11/Z / Wellcome Trust Senior Investigator Award; Wellcome Trust SRF/01/010 / National Institute for Health Research; National Institute for Health Research (NIHR) G0400126 / Medical Research Council; UK Research & Innovation (UKRI); Medical Research Council UK (MRC) G0400126 / MRC; UK Research & Innovation (UKRI); Medical Research Council UK (MRC) 090532/Z/09/Z; 075491/Z/04/B / Wellcome Trust Centre for Human Genetics core grants 1895/96 / Fight for Sight 085475/B/08/Z; 085475/Z/08/Z / Wellcome Trust, as part of the WTCCC2 project; Wellcome Trust Royal Society Wolfson Merit Award; Royal Society
Identifiers: 9936928708331
Academic Unit: King Abdulaziz University
Language: English
Resource Type: Journal article