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Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus
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 c...
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2013
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3904806/ https://www.ncbi.nlm.nih.gov/pubmed/23836780 http://dx.doi.org/10.1093/hmg/ddt293 |
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| author | Strange, Amy Bellenguez, Céline 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. |
| author_facet | Strange, Amy Bellenguez, Céline 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. |
| collection | PubMed |
| description | 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 (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. |
| format | Online Article Text |
| id | pubmed-3904806 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2013 |
| publisher | Oxford University Press |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-39048062014-01-29 Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus Strange, Amy Bellenguez, Céline 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. Hum Mol Genet Association Studies Article 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 (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. Oxford University Press 2013-11-15 2013-07-07 /pmc/articles/PMC3904806/ /pubmed/23836780 http://dx.doi.org/10.1093/hmg/ddt293 Text en © The Author 2013. Published by Oxford University Press. http://creativecommons.org/licenses/by/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited. |
| spellingShingle | Association Studies Article Strange, Amy Bellenguez, Céline 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. Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus |
| title | Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus |
| title_full | Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus |
| title_fullStr | Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus |
| title_full_unstemmed | Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus |
| title_short | Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus |
| title_sort | genome-wide association study of intraocular pressure identifies the glcci1/ica1 region as a glaucoma susceptibility locus |
| topic | Association Studies Article |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3904806/ https://www.ncbi.nlm.nih.gov/pubmed/23836780 http://dx.doi.org/10.1093/hmg/ddt293 |
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