دورية أكاديمية
Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma
| العنوان: | Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma |
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| المؤلفون: | Thorleifsson, Gudmar, Walters, G Bragi, Hewitt, Alex W, Masson, Gisli, Helgason, Agnar, DeWan, Andrew, Sigurdsson, Asgeir, Jonasdottir, Adalbjorg, Gudjonsson, Sigurjon A, Magnusson, Kristinn P, Stefansson, Hreinn, Lam, Dennis S C, Tam, Pancy O S, Gudmundsdottir, Gudrun J, Southgate, Laura, Burdon, Kathryn P, Gottfredsdottir, Maria Soffia, Aldred, Micheala A, Mitchell, Paul, St Clair, David, Collier, David A, Tang, Nelson, Sveinsson, Orn, Macgregor, Stuart, Martin, Nicholas G, Cree, Angela J, Gibson, Jane, Macleod, Alex, Jacob, Aby, Ennis, Sarah, Young, Terri L, Chan, Juliana C N, Karwatowski, Wojciech S S, Hammond, Christopher J, Thordarson, Kristjan, Zhang, Mingzhi, Wadelius, Claes, Lotery, Andrew J, Trembath, Richard C, Pang, Chi Pui, Hoh, Josephine, Craig, Jamie E, Kong, Augustine, Mackey, David A, Jonasson, Fridbert, Thorsteinsdottir, Unnur, Stefansson, Kari |
| المساهمون: | deCODE genetics Inc, Reykjavik, Iceland. gudmar.thorleifsson@decode.is |
| بيانات النشر: | Nature Pub. Co |
| سنة النشر: | 2010 |
| المجموعة: | Hirsla - Landspítali University Hospital research archive |
| مصطلحات موضوعية: | Adult, Aged, 80 and over, Case-Control Studies, Caveolin 1, Caveolin 2, Chromosomes, Human, Pair 7, Female, Genetic Predisposition to Disease, Genome, Genome-Wide Association Study, Genotype, Glaucoma, Open-Angle, Humans, Male, Middle Aged, Polymorphism, Single Nucleotide |
| الوصف: | To access publisher full text version of this article. Please click on the hyperlink in Additional Links field ; 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. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| تدمد: | 1546-1718 |
| العلاقة: | http://dx.doi.org/10.1038/ng.661Test; Nat. Genet. 2010, 42(10):906-9; http://hdl.handle.net/2336/114009Test; Nature genetics |
| DOI: | 10.1038/ng.661 |
| الإتاحة: | https://doi.org/10.1038/ng.661Test http://hdl.handle.net/2336/114009Test |
| رقم الانضمام: | edsbas.8DF4DCC5 |
| قاعدة البيانات: | BASE |
| تدمد: | 15461718 |
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| DOI: | 10.1038/ng.661 |