A Genomewide Scan Identifies Novel Early-Onset Primary Open-Angle Glaucoma Loci on 9q22 and 20p12

Glaucoma is a leading cause of blindness worldwide. The disease is characterized by a degeneration of the optic nerve, which is usually associated with elevated intraocular pressure. The common form of adult-onset primary open-angle glaucoma is inherited as a complex trait, whereas the rarer early-o...

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Bibliographic Details
Published in:American journal of human genetics 2004-06, Vol.74 (6), p.1314-1320
Main Authors: Wiggs, J.L., Lynch, S., Ynagi, G., Maselli, M., Auguste, J., Del Bono, E.A., Olson, L.M., Haines, J.L.
Format: Article
Language:English
Subjects:
Age of Onset
Biological and medical sciences
Chromosome Mapping
Chromosomes, Human, Pair 20 - genetics
Chromosomes, Human, Pair 9 - genetics
Cytoskeletal Proteins
Eye Proteins - genetics
Female
Genetic Linkage
Genome, Human
Glaucoma and intraocular pressure
Glaucoma, Open-Angle - genetics
Glycoproteins - genetics
Humans
Lod Score
Male
Medical sciences
Microsatellite Repeats
Mutation - genetics
Ophthalmology
Pedigree
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Summary:Glaucoma is a leading cause of blindness worldwide. The disease is characterized by a degeneration of the optic nerve, which is usually associated with elevated intraocular pressure. The common form of adult-onset primary open-angle glaucoma is inherited as a complex trait, whereas the rarer early-onset juvenile open-angle glaucoma (JOAG) exhibits autosomal dominant inheritance. Of all cases of JOAG, ∼10%–20% are caused by mutations in the myocilin gene. We have identified 25 pedigrees that are affected with typical JOAG and that demonstrate autosomal dominant inheritance. We sequenced the myocilin gene in probands from each family and found mutations in 8% of this population. To identify novel genes responsible for JOAG, we used families that did not have myocilin mutations for a genomewide screen. Markers located on chromosomes 9q22 and 20p12 showed evidence for linkage, identifying two novel loci for early-onset open-angle glaucoma.
ISSN:0002-9297
1537-6605
DOI:10.1086/421533