Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma

G Thorleifsson; G Walters; Alex Hewitt; Gisli Masson; A Helgason; A DeWan; A Sigurdsson; Adalbjorg Jonasdottir; Sigurjon Gudjonsson; K Magnusson; H Stefansson; D Lam; P Tam; G Gudmundsdottir; L Southgate; Kathryn Burdon; M Gottfredsdottir; Michaela Aldred; Paul Mitchell; David St Clair; David Collier; Nelson Tang; Orn Sveinsson; Stuart Macgregor; Nicholas Martin; Angela Cree; Jane Gibson; Alex Macleod; Aby Jacob; Sarah Ennis; Terri Young; Juliana Chan; Wojciech Karwatowski; Christopher Hammond; Kristjan Thordarson; Mingzhi Zhang; Claes Wadelius; Andrew Lotery; Richard Trembath; Chi Pui Pang; Josephine Hoh; Jamie Craig; Augustine Kong; David Mackey; Fridbert Jonasson; Unnur Thorsteinsdottir; Kari Stefansson

doi:10.1038/ng.661

Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma

G Thorleifsson, G Walters, Alex Hewitt, Gisli Masson, A Helgason, A DeWan, A Sigurdsson, Adalbjorg Jonasdottir, Sigurjon Gudjonsson, K Magnusson, H Stefansson, D Lam, P Tam, G Gudmundsdottir, L Southgate, Kathryn Burdon, M Gottfredsdottir, Michaela Aldred, Paul Mitchell, David St ClairDavid Collier, Nelson Tang, Orn Sveinsson, Stuart Macgregor, Nicholas Martin, Angela Cree, Jane Gibson, Alex Macleod, Aby Jacob, Sarah Ennis, Terri Young, Juliana Chan, Wojciech Karwatowski, Christopher Hammond, Kristjan Thordarson, Mingzhi Zhang, Claes Wadelius, Andrew Lotery, Richard Trembath, Chi Pui Pang, Josephine Hoh, Jamie Craig, Augustine Kong, David Mackey, Fridbert Jonasson, Unnur Thorsteinsdottir, Kari Stefansson

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

346 Citations (Scopus)

Abstract

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 ĝ̂'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.

Original language	English
Pages (from-to)	906-909
Number of pages	4
Journal	Nature Genetics
Volume	42
Issue number	10
DOIs	https://doi.org/10.1038/ng.661
Publication status	Published - Oct 2010

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Thorleifsson, G., Walters, G., Hewitt, A., Masson, G., Helgason, A., DeWan, A., Sigurdsson, A., Jonasdottir, A., Gudjonsson, S., Magnusson, K., Stefansson, H., Lam, D., Tam, P., Gudmundsdottir, G., Southgate, L., Burdon, K., Gottfredsdottir, M., Aldred, M., Mitchell, P., ... Stefansson, K. (2010). Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma. Nature Genetics, 42(10), 906-909. https://doi.org/10.1038/ng.661

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title = "Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma",

abstract = "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 {\^ĝ}'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.",

author = "G Thorleifsson and G Walters and Alex Hewitt and Gisli Masson and A Helgason and A DeWan and A Sigurdsson and Adalbjorg Jonasdottir and Sigurjon Gudjonsson and K Magnusson and H Stefansson and D Lam and P Tam and G Gudmundsdottir and L Southgate and Kathryn Burdon and M Gottfredsdottir and Michaela Aldred and Paul Mitchell and {St Clair}, David and David Collier and Nelson Tang and Orn Sveinsson and Stuart Macgregor and Nicholas Martin and Angela Cree and Jane Gibson and Alex Macleod and Aby Jacob and Sarah Ennis and Terri Young and Juliana Chan and Wojciech Karwatowski and Christopher Hammond and Kristjan Thordarson and Mingzhi Zhang and Claes Wadelius and Andrew Lotery and Richard Trembath and Pang, {Chi Pui} and Josephine Hoh and Jamie Craig and Augustine Kong and David Mackey and Fridbert Jonasson and Unnur Thorsteinsdottir and Kari Stefansson",

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doi = "10.1038/ng.661",

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Thorleifsson, G, Walters, G, Hewitt, A, Masson, G, Helgason, A, DeWan, A, Sigurdsson, A, Jonasdottir, A, Gudjonsson, S, Magnusson, K, Stefansson, H, Lam, D, Tam, P, Gudmundsdottir, G, Southgate, L, Burdon, K, Gottfredsdottir, M, Aldred, M, Mitchell, P, St Clair, D, Collier, D, Tang, N, Sveinsson, O, Macgregor, S, Martin, N, Cree, A, Gibson, J, Macleod, A, Jacob, A, Ennis, S, Young, T, Chan, J, Karwatowski, W, Hammond, C, Thordarson, K, Zhang, M, Wadelius, C, Lotery, A, Trembath, R, Pang, CP, Hoh, J, Craig, J, Kong, A, Mackey, D, Jonasson, F, Thorsteinsdottir, U & Stefansson, K 2010, 'Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma', Nature Genetics, vol. 42, no. 10, pp. 906-909. https://doi.org/10.1038/ng.661

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AU - Thorleifsson, G

AU - Walters, G

AU - Hewitt, Alex

AU - Masson, Gisli

AU - Helgason, A

AU - DeWan, A

AU - Sigurdsson, A

AU - Jonasdottir, Adalbjorg

AU - Gudjonsson, Sigurjon

AU - Magnusson, K

AU - Stefansson, H

AU - Lam, D

AU - Tam, P

AU - Gudmundsdottir, G

AU - Southgate, L

AU - Burdon, Kathryn

AU - Gottfredsdottir, M

AU - Aldred, Michaela

AU - Mitchell, Paul

AU - St Clair, David

AU - Collier, David

AU - Tang, Nelson

AU - Sveinsson, Orn

AU - Macgregor, Stuart

AU - Martin, Nicholas

AU - Cree, Angela

AU - Gibson, Jane

AU - Macleod, Alex

AU - Jacob, Aby

AU - Ennis, Sarah

AU - Young, Terri

AU - Chan, Juliana

AU - Karwatowski, Wojciech

AU - Hammond, Christopher

AU - Thordarson, Kristjan

AU - Zhang, Mingzhi

AU - Wadelius, Claes

AU - Lotery, Andrew

AU - Trembath, Richard

AU - Pang, Chi Pui

AU - Hoh, Josephine

AU - Craig, Jamie

AU - Kong, Augustine

AU - Mackey, David

AU - Jonasson, Fridbert

AU - Thorsteinsdottir, Unnur

AU - Stefansson, Kari

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AB - 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 ĝ̂'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.

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U2 - 10.1038/ng.661

DO - 10.1038/ng.661

M3 - Article

SN - 1061-4036

VL - 42

SP - 906

EP - 909

JO - Nature Genetics

JF - Nature Genetics

IS - 10

ER -

Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma

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