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Common Genetic Determinants of Intraocular Pressure and Primary Open-Angle Glaucoma

Overview of attention for article published in PLoS Genetics, May 2012
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Title
Common Genetic Determinants of Intraocular Pressure and Primary Open-Angle Glaucoma
Published in
PLoS Genetics, May 2012
DOI 10.1371/journal.pgen.1002611
Pubmed ID
Authors

Leonieke M. E. van Koolwijk, Wishal D. Ramdas, M. Kamran Ikram, Nomdo M. Jansonius, Francesca Pasutto, Pirro G. Hysi, Stuart Macgregor, Sarah F. Janssen, Alex W. Hewitt, Ananth C. Viswanathan, Jacoline B. ten Brink, S. Mohsen Hosseini, Najaf Amin, Dominiek D. G. Despriet, Jacqueline J. M. Willemse-Assink, Rogier Kramer, Fernando Rivadeneira, Maksim Struchalin, Yurii S. Aulchenko, Nicole Weisschuh, Matthias Zenkel, Christian Y. Mardin, Eugen Gramer, Ulrich Welge-Lüssen, Grant W. Montgomery, Francis Carbonaro, Terri L. Young, Céline Bellenguez, Peter McGuffin, Paul J. Foster, Fotis Topouzis, Paul Mitchell, Jie Jin Wang, Tien Y. Wong, Monika A. Czudowska, Albert Hofman, Andre G. Uitterlinden, Roger C. W. Wolfs, Paulus T. V. M. de Jong, Ben A. Oostra, Andrew D. Paterson, David A. Mackey, Arthur A. B. Bergen, André Reis, Christopher J. Hammond, Johannes R. Vingerling, Hans G. Lemij, Caroline C. W. Klaver, Cornelia M. van Duijn

Abstract

Intraocular pressure (IOP) is a highly heritable risk factor for primary open-angle glaucoma and is the only target for current glaucoma therapy. The genetic factors which determine IOP are largely unknown. We performed a genome-wide association study for IOP in 11,972 participants from 4 independent population-based studies in The Netherlands. We replicated our findings in 7,482 participants from 4 additional cohorts from the UK, Australia, Canada, and the Wellcome Trust Case-Control Consortium 2/Blue Mountains Eye Study. IOP was significantly associated with rs11656696, located in GAS7 at 17p13.1 (p=1.4×10(-8)), and with rs7555523, located in TMCO1 at 1q24.1 (p=1.6×10(-8)). In a meta-analysis of 4 case-control studies (total N = 1,432 glaucoma cases), both variants also showed evidence for association with glaucoma (p=2.4×10(-2) for rs11656696 and p=9.1×10(-4) for rs7555523). GAS7 and TMCO1 are highly expressed in the ciliary body and trabecular meshwork as well as in the lamina cribrosa, optic nerve, and retina. Both genes functionally interact with known glaucoma disease genes. These data suggest that we have identified two clinically relevant genes involved in IOP regulation.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 128 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Spain 2 2%
Brazil 2 2%
Malaysia 1 <1%
France 1 <1%
Australia 1 <1%
Canada 1 <1%
Japan 1 <1%
Unknown 119 93%

Demographic breakdown

Readers by professional status Count As %
Researcher 27 21%
Student > Ph. D. Student 16 13%
Student > Master 13 10%
Student > Doctoral Student 11 9%
Professor 9 7%
Other 30 23%
Unknown 22 17%
Readers by discipline Count As %
Medicine and Dentistry 38 30%
Agricultural and Biological Sciences 28 22%
Biochemistry, Genetics and Molecular Biology 19 15%
Nursing and Health Professions 4 3%
Neuroscience 4 3%
Other 11 9%
Unknown 24 19%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 2. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 13 May 2012.
All research outputs
#16,747,916
of 25,411,814 outputs
Outputs from PLoS Genetics
#7,058
of 8,964 outputs
Outputs of similar age
#112,112
of 175,927 outputs
Outputs of similar age from PLoS Genetics
#94
of 157 outputs
Altmetric has tracked 25,411,814 research outputs across all sources so far. This one is in the 32nd percentile – i.e., 32% of other outputs scored the same or lower than it.
So far Altmetric has tracked 8,964 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 17.8. This one is in the 18th percentile – i.e., 18% of its peers scored the same or lower than it.
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We're also able to compare this research output to 157 others from the same source and published within six weeks on either side of this one. This one is in the 33rd percentile – i.e., 33% of its contemporaries scored the same or lower than it.