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

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

Thorleifsson, Gudmar (author)

Walters, G. Bragi (author)

Hewitt, Alex W. (author)

Masson, Gisli (author)

Helgason, Agnar (author)

DeWan, Andrew (author)

Sigurdsson, Asgeir (author)

Jonasdottir, Adalbjorg (author)

Gudjonsson, Sigurjon A. (author)

Magnusson, Kristinn P. (author)

Stefansson, Hreinn (author)

Lam, Dennis S. C. (author)

Tam, Pancy O. S. (author)

Gudmundsdottir, Gudrun J. (author)

Southgate, Laura (author)

Burdon, Kathryn P. (author)

Gottfredsdottir, Maria Soffia (author)

Aldred, Micheala A. (author)

Mitchell, Paul (author)

St Clair, David (author)

Collier, David A. (author)

Tang, Nelson (author)

Sveinsson, Orn (author)

Macgregor, Stuart (author)

Martin, Nicholas G. (author)

Cree, Angela J. (author)

Gibson, Jane (author)

MacLeod, Alex (author)

Jacob, Aby (author)

Ennis, Sarah (author)

Young, Terri L. (author)

Chan, Juliana C. N. (author)

Karwatowski, Wojciech S. S. (author)

Hammond, Christopher J. (author)

Thordarson, Kristjan (author)

Zhang, Mingzhi (author)

Wadelius, Claes (author): Uppsala universitet,Institutionen för genetik och patologi

Lotery, Andrew J. (author)

Trembath, Richard C. (author)

Pang, Chi Pui (author)

Hoh, Josephine (author)

Craig, Jamie E. (author)

Kong, Augustine (author)

Mackey, David A. (author)

Jonasson, Fridbert (author)

Thorsteinsdottir, Unnur (author)

Stefansson, Kari (author)

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(creator_code:org_t)

2010-09-12
2010
English.
In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 42:10, s. 906-909

Related links:: https://europepmc.or...; show more...; https://urn.kb.se/re...; https://doi.org/10.1...; show less...

Journal article (peer-reviewed)

Abstract Subject headings

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 x 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.

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By the author/editor: Thorleifsson, Gu ...; Walters, G. Brag ...; Hewitt, Alex W.; Masson, Gisli; Helgason, Agnar; DeWan, Andrew; show more...; Sigurdsson, Asge ...; Jonasdottir, Ada ...; Gudjonsson, Sigu ...; Magnusson, Krist ...; Stefansson, Hrei ...; Lam, Dennis S. C ...; Tam, Pancy O. S.; Gudmundsdottir, ...; Southgate, Laura; Burdon, Kathryn ...; Gottfredsdottir, ...; Aldred, Micheala ...; Mitchell, Paul; St Clair, David; Collier, David A ...; Tang, Nelson; Sveinsson, Orn; Macgregor, Stuar ...; Martin, Nicholas ...; Cree, Angela J.; Gibson, Jane; MacLeod, Alex; Jacob, Aby; Ennis, Sarah; Young, Terri L.; Chan, Juliana C. ...; Karwatowski, Woj ...; Hammond, Christo ...; Thordarson, Kris ...; Zhang, Mingzhi; Wadelius, Claes; Lotery, Andrew J ...; Trembath, Richar ...; Pang, Chi Pui; Hoh, Josephine; Craig, Jamie E.; Kong, Augustine; Mackey, David A.; Jonasson, Fridbe ...; Thorsteinsdottir ...; Stefansson, Kari; show less...

Articles in the publication: Nature Genetics

By the university: Uppsala University

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

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