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

Strange, Amy, Bellenguez, Celine, Sim, Xueling, Luben, Robert, Hysi, Pirro G., Ramdas, Wishal D., van Koolwijk, Leonieke M. E., Freeman, Colin, Pirinen, Matti, Su, Zhan, Band, Gavin, Pearson, Richard, Vukcevic, Damjan, Langford, Cordelia, Deloukas, Panos, Hunt, Sarah, Gray, Emma, Dronov, Serge, Potter, Simon C., Tashakkori-Ghanbaria, Avazeh, Edkins, Sarah, Bumpstead, Suzannah J., Blackwell, Jenefer M., Bramon, Elvira, Brown, Matthew A., Casas, Juan P., Corvin, Aiden, Duncanson, Audrey, Jankowski, Janusz A. Z., Markus, Hugh S., Mathew, Christopher G., Palmer, Colin N. A., Plomin, Robert, Rautanen, Anna, Sawcer, Stephen J., Trembath, Richard C., Wood, Nicholas W., Barroso, Ines, Peltonen, Leena, Healey, Paul, McGuffin, Peter, Topouzis, Fotis, Klaver, Caroline C. W., van Duijn, Cornelia M., Mackey, David A., Young, Terri L., Hammond, Christopher J., Khaw, Kay-Tee, Wareham, Nick, Wang, Jie Jin, Wong, Tien Y., Foster, Paul J., Mitchell, Paul, Spencer, Chris C. A., Donnelly, Peter, Viswanathan, Ananth C., The Blue Mountains Eye Study (BMES) and The Wellcome Trust Case Control Consortium 2 (WTCCC2) (2013) Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus. Human Molecular Genetics, 22 22: 4653-4660. doi:10.1093/hmg/ddt293

Author Strange, Amy
Bellenguez, Celine
Sim, Xueling
Luben, Robert
Hysi, Pirro G.
Ramdas, Wishal D.
van Koolwijk, Leonieke M. E.
Freeman, Colin
Pirinen, Matti
Su, Zhan
Band, Gavin
Pearson, Richard
Vukcevic, Damjan
Langford, Cordelia
Deloukas, Panos
Hunt, Sarah
Gray, Emma
Dronov, Serge
Potter, Simon C.
Tashakkori-Ghanbaria, Avazeh
Edkins, Sarah
Bumpstead, Suzannah J.
Blackwell, Jenefer M.
Bramon, Elvira
Brown, Matthew A.
Casas, Juan P.
Corvin, Aiden
Duncanson, Audrey
Jankowski, Janusz A. Z.
Markus, Hugh S.
Mathew, Christopher G.
Palmer, Colin N. A.
Plomin, Robert
Rautanen, Anna
Sawcer, Stephen J.
Trembath, Richard C.
Wood, Nicholas W.
Barroso, Ines
Peltonen, Leena
Healey, Paul
McGuffin, Peter
Topouzis, Fotis
Klaver, Caroline C. W.
van Duijn, Cornelia M.
Mackey, David A.
Young, Terri L.
Hammond, Christopher J.
Khaw, Kay-Tee
Wareham, Nick
Wang, Jie Jin
Wong, Tien Y.
Foster, Paul J.
Mitchell, Paul
Spencer, Chris C. A.
Donnelly, Peter
Viswanathan, Ananth C.
The Blue Mountains Eye Study (BMES)
The Wellcome Trust Case Control Consortium 2 (WTCCC2)
Total Author Count Override 67
Title Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus
Journal name Human Molecular Genetics   Check publisher's open access policy
ISSN 0964-6906
Publication date 2013-11
Year available 2013
Sub-type Article (original research)
DOI 10.1093/hmg/ddt293
Open Access Status DOI
Volume 22
Issue 22
Start page 4653
End page 4660
Total pages 8
Place of publication Oxford, United Kingdom
Publisher Oxford University Press
Collection year 2014
Language eng
Formatted abstract
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, Pcombined = 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 (95%CI = 0.30–0.61 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.
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2014 Collection
UQ Diamantina Institute Publications
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