Document Detail

Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma.
MedLine Citation:
PMID:  20835238     Owner:  NLM     Status:  MEDLINE    
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.
Gudmar Thorleifsson; G Bragi Walters; Alex W Hewitt; Gisli Masson; Agnar Helgason; Andrew DeWan; Asgeir Sigurdsson; Adalbjorg Jonasdottir; Sigurjon A Gudjonsson; Kristinn P Magnusson; Hreinn Stefansson; Dennis S C Lam; Pancy O S Tam; Gudrun J Gudmundsdottir; Laura Southgate; Kathryn P Burdon; Maria Soffia Gottfredsdottir; Micheala A Aldred; Paul Mitchell; David St Clair; David A Collier; Nelson Tang; Orn Sveinsson; Stuart Macgregor; Nicholas G Martin; Angela J Cree; Jane Gibson; Alex Macleod; Aby Jacob; Sarah Ennis; Terri L Young; Juliana C N Chan; Wojciech S S Karwatowski; Christopher J Hammond; Kristjan Thordarson; Mingzhi Zhang; Claes Wadelius; Andrew J Lotery; Richard C Trembath; Chi Pui Pang; Josephine Hoh; Jamie E Craig; Augustine Kong; David A Mackey; Fridbert Jonasson; Unnur Thorsteinsdottir; Kari Stefansson
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Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.     Date:  2010-09-12
Journal Detail:
Title:  Nature genetics     Volume:  42     ISSN:  1546-1718     ISO Abbreviation:  Nat. Genet.     Publication Date:  2010 Oct 
Date Detail:
Created Date:  2010-09-29     Completed Date:  2010-10-28     Revised Date:  2014-09-15    
Medline Journal Info:
Nlm Unique ID:  9216904     Medline TA:  Nat Genet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  906-9     Citation Subset:  IM    
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MeSH Terms
Aged, 80 and over
Case-Control Studies
Caveolin 1 / genetics*
Caveolin 2 / genetics*
Chromosomes, Human, Pair 7 / genetics
Genetic Predisposition to Disease*
Genome, Human*
Genome-Wide Association Study*
Glaucoma, Open-Angle / genetics*,  pathology
Middle Aged
Polymorphism, Single Nucleotide / genetics*
Grant Support
1R01EY018246/EY/NEI NIH HHS; R01 EY014685/EY/NEI NIH HHS; R01 EY018246/EY/NEI NIH HHS; R01 EY018246-03/EY/NEI NIH HHS; //Wellcome Trust
Reg. No./Substance:
0/CAV1 protein, human; 0/CAV2 protein, human; 0/Caveolin 1; 0/Caveolin 2

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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