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Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma in Caucasians from the USA.
- Source :
-
Human molecular genetics [Hum Mol Genet] 2011 Dec 01; Vol. 20 (23), pp. 4707-13. Date of Electronic Publication: 2011 Aug 26. - Publication Year :
- 2011
-
Abstract
- Primary open-angle glaucoma (POAG) is a genetically complex common disease characterized by progressive optic nerve degeneration that results in irreversible blindness. Recently, a genome-wide association study (GWAS) for POAG in an Icelandic population identified significant associations with single nucleotide polymorphisms (SNPs) between the CAV1 and CAV2 genes on chromosome 7q31. In this study, we confirm that the identified SNPs are associated with POAG in our Caucasian US population and that specific haplotypes located in the CAV1/CAV2 intergenic region are associated with the disease. We also present data suggesting that associations with several CAV1/CAV2 SNPs are significant mostly in women.
- Subjects :
- Aged
DNA, Intergenic genetics
Female
Haplotypes genetics
Humans
Iceland
Low Tension Glaucoma genetics
Male
Middle Aged
Reproducibility of Results
Sex Characteristics
Signal Transduction
United States
Caveolin 1 genetics
Caveolin 2 genetics
Genetic Predisposition to Disease
Genome-Wide Association Study
Glaucoma, Open-Angle genetics
Polymorphism, Single Nucleotide genetics
White People genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1460-2083
- Volume :
- 20
- Issue :
- 23
- Database :
- MEDLINE
- Journal :
- Human molecular genetics
- Publication Type :
- Academic Journal
- Accession number :
- 21873608
- Full Text :
- https://doi.org/10.1093/hmg/ddr382