Please use this identifier to cite or link to this item: https://doi.org/10.1371/journal.pgen.1002611
Title: Common genetic determinants of intraocular pressure and primary open-angle Glaucoma
Authors: van Koolwijk, L.M.E.
Ramdas, W.D.
Ikram, M.K.
Jansonius, N.M.
Pasutto, F.
Hysi, P.G.
Macgregor, S.
Janssen, S.F.
Hewitt, A.W.
Viswanathan, A.C.
ten Brink, J.B.
Hosseini, S.M.
Amin, N.
Despriet, D.D.G.
Willemse-Assink, J.J.M.
Kramer, R.
Rivadeneira, F.
Struchalin, M.
Aulchenko, Y.S.
Weisschuh, N.
Zenkel, M.
Mardin, C.Y.
Gramer, E.
Welge-Lüssen, U.
Montgomery, G.W.
Carbonaro, F.
Young, T.L.
Bellenguez, C.
McGuffin, P.
Foster, P.J.
Topouzis, F.
Mitchell, P.
Wang, J.J.
Wong, T.Y. 
Czudowska, M.A.
Hofman, A.
Uitterlinden, A.G.
Wolfs, R.C.W.
de Jong, P.T.V.M.
Oostra, B.A.
Paterson, A.D.
Mackey, D.A.
Bergen, A.A.B.
Reis, A.
Hammond, C.J.
Vingerling, J.R.
Lemij, H.G.
Klaver, C.C.W.
van Duijn, C.M.
Issue Date: May-2012
Citation: van Koolwijk, L.M.E., Ramdas, W.D., Ikram, M.K., Jansonius, N.M., Pasutto, F., Hysi, P.G., Macgregor, S., Janssen, S.F., Hewitt, A.W., Viswanathan, A.C., ten Brink, J.B., Hosseini, S.M., Amin, N., Despriet, D.D.G., Willemse-Assink, J.J.M., Kramer, R., Rivadeneira, F., Struchalin, M., Aulchenko, Y.S., Weisschuh, N., Zenkel, M., Mardin, C.Y., Gramer, E., Welge-Lüssen, U., Montgomery, G.W., Carbonaro, F., Young, T.L., Bellenguez, C., McGuffin, P., Foster, P.J., Topouzis, F., Mitchell, P., Wang, J.J., Wong, T.Y., Czudowska, M.A., Hofman, A., Uitterlinden, A.G., Wolfs, R.C.W., de Jong, P.T.V.M., Oostra, B.A., Paterson, A.D., Mackey, D.A., Bergen, A.A.B., Reis, A., Hammond, C.J., Vingerling, J.R., Lemij, H.G., Klaver, C.C.W., van Duijn, C.M. (2012-05). Common genetic determinants of intraocular pressure and primary open-angle Glaucoma. PLoS Genetics 8 (5) : -. ScholarBank@NUS Repository. https://doi.org/10.1371/journal.pgen.1002611
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. © 2012 van Koolwijk et al.
Source Title: PLoS Genetics
URI: http://scholarbank.nus.edu.sg/handle/10635/109256
ISSN: 15537390
DOI: 10.1371/journal.pgen.1002611
Appears in Collections:Staff Publications

Show full item record
Files in This Item:
File Description SizeFormatAccess SettingsVersion 
2012_Common_Genetic_Determinants_Intraocular_Pressure.pdf656.34 kBAdobe PDF

OPEN

PublishedView/Download

SCOPUSTM   
Citations

90
checked on Jun 20, 2018

WEB OF SCIENCETM
Citations

83
checked on Jun 13, 2018

Page view(s)

65
checked on Jun 14, 2018

Download(s)

29
checked on Jun 14, 2018

Google ScholarTM

Check

Altmetric


Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.