Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma.
Publication
, Journal Article
Thorleifsson, G; Walters, GB; Hewitt, AW; Masson, G; Helgason, A; DeWan, A; Sigurdsson, A; Jonasdottir, A; Gudjonsson, SA; Magnusson, KP ...
Published in: Nat Genet
October 2010
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.
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Published In
Nat Genet
DOI
EISSN
1546-1718
Publication Date
October 2010
Volume
42
Issue
10
Start / End Page
906 / 909
Location
United States
Related Subject Headings
- Polymorphism, Single Nucleotide
- Middle Aged
- Male
- Humans
- Glaucoma, Open-Angle
- Genotype
- Genome-Wide Association Study
- Genome, Human
- Genetic Predisposition to Disease
- Female
Citation
APA
Chicago
ICMJE
MLA
NLM
Thorleifsson, G., Walters, G. B., Hewitt, A. W., Masson, G., Helgason, A., DeWan, A., … Stefansson, K. (2010). Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma. Nat Genet, 42(10), 906–909. https://doi.org/10.1038/ng.661
Thorleifsson, Gudmar, G Bragi Walters, Alex W. Hewitt, Gisli Masson, Agnar Helgason, Andrew DeWan, Asgeir Sigurdsson, et al. “Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma.” Nat Genet 42, no. 10 (October 2010): 906–9. https://doi.org/10.1038/ng.661.
Thorleifsson G, Walters GB, Hewitt AW, Masson G, Helgason A, DeWan A, et al. Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma. Nat Genet. 2010 Oct;42(10):906–9.
Thorleifsson, Gudmar, et al. “Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma.” Nat Genet, vol. 42, no. 10, Oct. 2010, pp. 906–09. Pubmed, doi:10.1038/ng.661.
Thorleifsson G, Walters GB, Hewitt AW, Masson G, Helgason A, DeWan A, Sigurdsson A, Jonasdottir A, Gudjonsson SA, Magnusson KP, Stefansson H, Lam DSC, Tam POS, Gudmundsdottir GJ, Southgate L, Burdon KP, Gottfredsdottir MS, Aldred MA, Mitchell P, St Clair D, Collier DA, Tang N, Sveinsson O, Macgregor S, Martin NG, Cree AJ, Gibson J, Macleod A, Jacob A, Ennis S, Young TL, Chan JCN, Karwatowski WSS, Hammond CJ, Thordarson K, Zhang M, Wadelius C, Lotery AJ, Trembath RC, Pang CP, Hoh J, Craig JE, Kong A, Mackey DA, Jonasson F, Thorsteinsdottir U, Stefansson K. Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma. Nat Genet. 2010 Oct;42(10):906–909.
Published In
Nat Genet
DOI
EISSN
1546-1718
Publication Date
October 2010
Volume
42
Issue
10
Start / End Page
906 / 909
Location
United States
Related Subject Headings
- Polymorphism, Single Nucleotide
- Middle Aged
- Male
- Humans
- Glaucoma, Open-Angle
- Genotype
- Genome-Wide Association Study
- Genome, Human
- Genetic Predisposition to Disease
- Female