Copy number variation at chromosome 5q21.2 is associated with intraocular pressure

Abhishek Nag; Cristina Venturini; Pirro G Hysi; Matthew Arno; Estibaliz Aldecoa-Otalora Astarloa; Stuart Macgregor; Alex W Hewitt; Terri L Young; Paul Mitchell; Ananth C Viswanathan; David A Mackey; Christopher J Hammond

doi:10.1167/iovs.13-11952

Copy number variation at chromosome 5q21.2 is associated with intraocular pressure

Abhishek Nag, Cristina Venturini, Pirro G Hysi, Matthew Arno, Estibaliz Aldecoa-Otalora Astarloa, Stuart Macgregor, Alex W Hewitt, Terri L Young, Paul Mitchell, Ananth C Viswanathan, David A Mackey, Christopher J Hammond

Research output: Contribution to journal › Article › peer-review

11 Citations (Scopus)

Abstract

Glaucoma is a major cause of blindness in the world. Recent genome-wide association studies (GWAS) have identified common genetic variants for glaucoma, but still a significant heritability gap remains. We hypothesized that copy number variants (CNVs) might influence part of the susceptibility to glaucoma or its related quantitative endophenotypes.

Original language	English
Pages (from-to)	3607-12
Number of pages	6
Journal	Investigative Ophthalmology & Visual Science
Volume	54
Issue number	5
DOIs	https://doi.org/10.1167/iovs.13-11952
Publication status	Published - 2013

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Nag, A., Venturini, C., Hysi, P. G., Arno, M., Aldecoa-Otalora Astarloa, E., Macgregor, S., Hewitt, A. W., Young, T. L., Mitchell, P., Viswanathan, A. C., Mackey, D. A., & Hammond, C. J. (2013). Copy number variation at chromosome 5q21.2 is associated with intraocular pressure. Investigative Ophthalmology & Visual Science, 54(5), 3607-12. https://doi.org/10.1167/iovs.13-11952

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AU - Nag, Abhishek

AU - Venturini, Cristina

AU - Hysi, Pirro G

AU - Arno, Matthew

AU - Aldecoa-Otalora Astarloa, Estibaliz

AU - Macgregor, Stuart

AU - Hewitt, Alex W

AU - Young, Terri L

AU - Mitchell, Paul

AU - Viswanathan, Ananth C

AU - Mackey, David A

AU - Hammond, Christopher J

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AB - Glaucoma is a major cause of blindness in the world. Recent genome-wide association studies (GWAS) have identified common genetic variants for glaucoma, but still a significant heritability gap remains. We hypothesized that copy number variants (CNVs) might influence part of the susceptibility to glaucoma or its related quantitative endophenotypes.

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Copy number variation at chromosome 5q21.2 is associated with intraocular pressure

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