Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma
We conducted a genome-wide association study for primary open-angle glaucoma (POAG) in 1,263 affected individuals (cases) and 34,877 controls from Iceland. We identified a common sequence variant at 7q31 (rs4236601[A], odds ratio (OR) = 1.36, P = 5.0 '- 10 '10). We then replicated the asso...
Published in: | Nature Genetics |
---|---|
Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
Format: | Article in Journal/Newspaper |
Language: | English |
Published: |
Nature Publishing Group
2010
|
Subjects: | |
Online Access: | https://doi.org/10.1038/ng.661 http://www.ncbi.nlm.nih.gov/pubmed/20835238 http://ecite.utas.edu.au/67784 |
id |
ftunivtasecite:oai:ecite.utas.edu.au:67784 |
---|---|
record_format |
openpolar |
spelling |
ftunivtasecite:oai:ecite.utas.edu.au:67784 2023-05-15T16:49:15+02:00 Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma Thorleifsson, G Walters, GB Hewitt, AW Masson, G Helgason, A DeWan, A Sigurdsson, A Jonasdottir, A Gudjonsson, SA Magnusson, KP Stefansson, H Lam, DSC Tam, POS Gudmundsdottir, GJ Southgate, L Burdon, KP Gottfredsdottir, MS Aldred, MA Mitchell, P St Clair, D Collier, DA Tang, N Sveinsson, O Macgregor, S Martin, NG Cree, AJ Gibson, J MacLeod, A Jacob, A Ennis, S Young, TL Chan, JCN Karwatowski, WSS Hammond, CJ Thordarson, K Zhang, M Wadelius, C Lotery, AJ Trembath, RC Pang, CP Hoh, J Craig, JE Kong, A Mackey, DA Jonasson, F Thorsteinsdottir, U Stefansson, K 2010 https://doi.org/10.1038/ng.661 http://www.ncbi.nlm.nih.gov/pubmed/20835238 http://ecite.utas.edu.au/67784 en eng Nature Publishing Group http://dx.doi.org/10.1038/ng.661 Thorleifsson, G and Walters, GB and Hewitt, AW and Masson, G and Helgason, A and DeWan, A and Sigurdsson, A and Jonasdottir, A and Gudjonsson, SA and Magnusson, KP and Stefansson, H and Lam, DSC and Tam, POS and Gudmundsdottir, GJ and Southgate, L and Burdon, KP and Gottfredsdottir, MS and Aldred, MA and Mitchell, P and St Clair, D and Collier, DA and Tang, N and Sveinsson, O and Macgregor, S and Martin, NG and Cree, AJ and Gibson, J and MacLeod, A and Jacob, A and Ennis, S and Young, TL and Chan, JCN and Karwatowski, WSS and Hammond, CJ and Thordarson, K and Zhang, M and Wadelius, C and Lotery, AJ and Trembath, RC and Pang, CP and Hoh, J and Craig, JE and Kong, A and Mackey, DA and Jonasson, F and Thorsteinsdottir, U and Stefansson, K, Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma, Nature Genetics, 42, (10) pp. 906-910. ISSN 1061-4036 (2010) [Refereed Article] http://www.ncbi.nlm.nih.gov/pubmed/20835238 http://ecite.utas.edu.au/67784 Medical and Health Sciences Ophthalmology and Optometry Vision Science Refereed Article PeerReviewed 2010 ftunivtasecite https://doi.org/10.1038/ng.661 2019-12-13T21:36:21Z We conducted a genome-wide association study for primary open-angle glaucoma (POAG) in 1,263 affected individuals (cases) and 34,877 controls from Iceland. We identified a common sequence variant at 7q31 (rs4236601[A], odds ratio (OR) = 1.36, P = 5.0 '- 10 '10). We then replicated the association in sample sets of 2,175 POAG cases and 2,064 controls from Sweden, the UK and Australia (combined OR = 1.18, P = 0.0015) and in 299 POAG cases and 580 unaffected controls from Hong Kong and Shantou, China (combined OR = 5.42, P = 0.0021). The risk variant identified here is located close to CAV1 and CAV2, both of which are expressed in the trabecular meshwork and retinal ganglion cells that are involved in the pathogenesis of POAG. 2010 Nature America, Inc. All rights reserved. Article in Journal/Newspaper Iceland eCite UTAS (University of Tasmania) Nature Genetics 42 10 906 909 |
institution |
Open Polar |
collection |
eCite UTAS (University of Tasmania) |
op_collection_id |
ftunivtasecite |
language |
English |
topic |
Medical and Health Sciences Ophthalmology and Optometry Vision Science |
spellingShingle |
Medical and Health Sciences Ophthalmology and Optometry Vision Science Thorleifsson, G Walters, GB Hewitt, AW Masson, G Helgason, A DeWan, A Sigurdsson, A Jonasdottir, A Gudjonsson, SA Magnusson, KP Stefansson, H Lam, DSC Tam, POS Gudmundsdottir, GJ Southgate, L Burdon, KP Gottfredsdottir, MS Aldred, MA Mitchell, P St Clair, D Collier, DA Tang, N Sveinsson, O Macgregor, S Martin, NG Cree, AJ Gibson, J MacLeod, A Jacob, A Ennis, S Young, TL Chan, JCN Karwatowski, WSS Hammond, CJ Thordarson, K Zhang, M Wadelius, C Lotery, AJ Trembath, RC Pang, CP Hoh, J Craig, JE Kong, A Mackey, DA Jonasson, F Thorsteinsdottir, U Stefansson, K Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma |
topic_facet |
Medical and Health Sciences Ophthalmology and Optometry Vision Science |
description |
We conducted a genome-wide association study for primary open-angle glaucoma (POAG) in 1,263 affected individuals (cases) and 34,877 controls from Iceland. We identified a common sequence variant at 7q31 (rs4236601[A], odds ratio (OR) = 1.36, P = 5.0 '- 10 '10). We then replicated the association in sample sets of 2,175 POAG cases and 2,064 controls from Sweden, the UK and Australia (combined OR = 1.18, P = 0.0015) and in 299 POAG cases and 580 unaffected controls from Hong Kong and Shantou, China (combined OR = 5.42, P = 0.0021). The risk variant identified here is located close to CAV1 and CAV2, both of which are expressed in the trabecular meshwork and retinal ganglion cells that are involved in the pathogenesis of POAG. 2010 Nature America, Inc. All rights reserved. |
format |
Article in Journal/Newspaper |
author |
Thorleifsson, G Walters, GB Hewitt, AW Masson, G Helgason, A DeWan, A Sigurdsson, A Jonasdottir, A Gudjonsson, SA Magnusson, KP Stefansson, H Lam, DSC Tam, POS Gudmundsdottir, GJ Southgate, L Burdon, KP Gottfredsdottir, MS Aldred, MA Mitchell, P St Clair, D Collier, DA Tang, N Sveinsson, O Macgregor, S Martin, NG Cree, AJ Gibson, J MacLeod, A Jacob, A Ennis, S Young, TL Chan, JCN Karwatowski, WSS Hammond, CJ Thordarson, K Zhang, M Wadelius, C Lotery, AJ Trembath, RC Pang, CP Hoh, J Craig, JE Kong, A Mackey, DA Jonasson, F Thorsteinsdottir, U Stefansson, K |
author_facet |
Thorleifsson, G Walters, GB Hewitt, AW Masson, G Helgason, A DeWan, A Sigurdsson, A Jonasdottir, A Gudjonsson, SA Magnusson, KP Stefansson, H Lam, DSC Tam, POS Gudmundsdottir, GJ Southgate, L Burdon, KP Gottfredsdottir, MS Aldred, MA Mitchell, P St Clair, D Collier, DA Tang, N Sveinsson, O Macgregor, S Martin, NG Cree, AJ Gibson, J MacLeod, A Jacob, A Ennis, S Young, TL Chan, JCN Karwatowski, WSS Hammond, CJ Thordarson, K Zhang, M Wadelius, C Lotery, AJ Trembath, RC Pang, CP Hoh, J Craig, JE Kong, A Mackey, DA Jonasson, F Thorsteinsdottir, U Stefansson, K |
author_sort |
Thorleifsson, G |
title |
Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma |
title_short |
Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma |
title_full |
Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma |
title_fullStr |
Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma |
title_full_unstemmed |
Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma |
title_sort |
common variants near cav1 and cav2 are associated with primary open-angle glaucoma |
publisher |
Nature Publishing Group |
publishDate |
2010 |
url |
https://doi.org/10.1038/ng.661 http://www.ncbi.nlm.nih.gov/pubmed/20835238 http://ecite.utas.edu.au/67784 |
genre |
Iceland |
genre_facet |
Iceland |
op_relation |
http://dx.doi.org/10.1038/ng.661 Thorleifsson, G and Walters, GB and Hewitt, AW and Masson, G and Helgason, A and DeWan, A and Sigurdsson, A and Jonasdottir, A and Gudjonsson, SA and Magnusson, KP and Stefansson, H and Lam, DSC and Tam, POS and Gudmundsdottir, GJ and Southgate, L and Burdon, KP and Gottfredsdottir, MS and Aldred, MA and Mitchell, P and St Clair, D and Collier, DA and Tang, N and Sveinsson, O and Macgregor, S and Martin, NG and Cree, AJ and Gibson, J and MacLeod, A and Jacob, A and Ennis, S and Young, TL and Chan, JCN and Karwatowski, WSS and Hammond, CJ and Thordarson, K and Zhang, M and Wadelius, C and Lotery, AJ and Trembath, RC and Pang, CP and Hoh, J and Craig, JE and Kong, A and Mackey, DA and Jonasson, F and Thorsteinsdottir, U and Stefansson, K, Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma, Nature Genetics, 42, (10) pp. 906-910. ISSN 1061-4036 (2010) [Refereed Article] http://www.ncbi.nlm.nih.gov/pubmed/20835238 http://ecite.utas.edu.au/67784 |
op_doi |
https://doi.org/10.1038/ng.661 |
container_title |
Nature Genetics |
container_volume |
42 |
container_issue |
10 |
container_start_page |
906 |
op_container_end_page |
909 |
_version_ |
1766039403217551360 |