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Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma.
- Source :
-
Nature genetics [Nat Genet] 2010 Oct; Vol. 42 (10), pp. 906-9. Date of Electronic Publication: 2010 Sep 12. - Publication Year :
- 2010
-
Abstract
- 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.
- Subjects :
- Adult
Aged
Aged, 80 and over
Case-Control Studies
Chromosomes, Human, Pair 7 genetics
Female
Genotype
Glaucoma, Open-Angle pathology
Humans
Male
Middle Aged
Caveolin 1 genetics
Caveolin 2 genetics
Genetic Predisposition to Disease
Genome, Human
Genome-Wide Association Study
Glaucoma, Open-Angle genetics
Polymorphism, Single Nucleotide genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1546-1718
- Volume :
- 42
- Issue :
- 10
- Database :
- MEDLINE
- Journal :
- Nature genetics
- Publication Type :
- Academic Journal
- Accession number :
- 20835238
- Full Text :
- https://doi.org/10.1038/ng.661