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Common variants nea...
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Thorleifsson, Gudmar
(author)
Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma
- Article/chapterEnglish2010
Publisher, publication year, extent ...
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2010-09-12
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Springer Science and Business Media LLC,2010
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printrdacarrier
Numbers
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LIBRIS-ID:oai:DiVA.org:uu-134678
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https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-134678URI
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https://doi.org/10.1038/ng.661DOI
Supplementary language notes
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Language:English
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Summary in:English
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
Notes
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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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Added entries (persons, corporate bodies, meetings, titles ...)
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Walters, G. Bragi
(author)
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Hewitt, Alex W.
(author)
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Masson, Gisli
(author)
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Helgason, Agnar
(author)
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DeWan, Andrew
(author)
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Sigurdsson, Asgeir
(author)
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Jonasdottir, Adalbjorg
(author)
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Gudjonsson, Sigurjon A.
(author)
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Magnusson, Kristinn P.
(author)
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Stefansson, Hreinn
(author)
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Lam, Dennis S. C.
(author)
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Tam, Pancy O. S.
(author)
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Gudmundsdottir, Gudrun J.
(author)
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Southgate, Laura
(author)
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Burdon, Kathryn P.
(author)
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Gottfredsdottir, Maria Soffia
(author)
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Aldred, Micheala A.
(author)
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Mitchell, Paul
(author)
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St Clair, David
(author)
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Collier, David A.
(author)
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Tang, Nelson
(author)
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Sveinsson, Orn
(author)
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Macgregor, Stuart
(author)
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Martin, Nicholas G.
(author)
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Cree, Angela J.
(author)
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Gibson, Jane
(author)
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MacLeod, Alex
(author)
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Jacob, Aby
(author)
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Ennis, Sarah
(author)
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Young, Terri L.
(author)
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Chan, Juliana C. N.
(author)
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Karwatowski, Wojciech S. S.
(author)
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Hammond, Christopher J.
(author)
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Thordarson, Kristjan
(author)
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Zhang, Mingzhi
(author)
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Wadelius, ClaesUppsala universitet,Institutionen för genetik och patologi(Swepub:uu)claeswad
(author)
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Lotery, Andrew J.
(author)
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Trembath, Richard C.
(author)
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Pang, Chi Pui
(author)
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Hoh, Josephine
(author)
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Craig, Jamie E.
(author)
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Kong, Augustine
(author)
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Mackey, David A.
(author)
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Jonasson, Fridbert
(author)
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Thorsteinsdottir, Unnur
(author)
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Stefansson, Kari
(author)
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Uppsala universitetInstitutionen för genetik och patologi
(creator_code:org_t)
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In:Nature Genetics: Springer Science and Business Media LLC42:10, s. 906-9091061-40361546-1718
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