Variations in the myocilin gene in patients with open-angle glaucoma

Wallace L M Alward; Young H Kwon; Cheryl L Khanna; A Tim Johnson; Sohan S Hayreh; M Bridget Zimmerman; Joanna Narkiewicz; Jeaneen L Andorf; Paula A Moore; John H Fingert; Val C Sheffield; Edwin M Stone

doi:10.1001/archopht.120.9.1189

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Variations in the myocilin gene in patients with open-angle glaucoma

Journal article

Open access

Peer reviewed

Variations in the myocilin gene in patients with open-angle glaucoma

Wallace L M Alward, Young H Kwon, Cheryl L Khanna, A Tim Johnson, Sohan S Hayreh, M Bridget Zimmerman, Joanna Narkiewicz, Jeaneen L Andorf, Paula A Moore, John H Fingert, …

Archives of ophthalmology (1960), Vol.120(9), pp.1189-1197

09/2002

DOI: 10.1001/archopht.120.9.1189

PMID: 12215093

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Abstract

To determine the prevalence and associated phenotype of myocilin (MYOC) coding sequence variations and a specific promoter polymorphism (MYOC.mt1) in patients with glaucoma and glaucoma suspects. A consecutive, unselected series of 779 patients (652 with open-angle glaucoma and 127 glaucoma suspects) were recruited from a university medical center and clinically characterized. The coding sequences of the MYOC gene and the MYOC.mt1 locus in the promoter region were screened for sequence variations. We determined the prevalence of MYOC coding sequence mutations and the MYOC.mt1 promoter polymorphism. We also compared the clinical features of individuals with and without mutations and the MYOC.mt1 promoter polymorphism. Plausible disease-causing sequence variations (DCVs) in the MYOC gene were found in 3.0% of the entire group. Such variations were found in patients with most forms of open-angle glaucoma studied. Patients with primary open-angle glaucoma (POAG) who harbored coding sequence DCVs were clinically similar to patients without them. Patients who harbored the rarer allele of the MYOC.mt1 promoter polymorphism were no different in any measure of disease severity from those who harbored the more common allele. MYOC DCVs were found in approximately 3% of patients with glaucoma and glaucoma suspects. The 2 alleles of the MYOC.mt1 promoter polymorphism were equally distributed among patients with POAG and healthy control subjects. Patients with POAG who harbored the rarer allele of the MYOC.mt1 promoter polymorphism were no different from those with the more common variant in any measure of disease severity. Testing for the MYOC.mt1 promoter polymorphism appears to be of no value in the evaluation of patients with glaucoma.

Cytoskeletal Proteins

Glycoproteins - genetics

Prevalence

Glaucoma, Open-Angle - genetics

Humans

Middle Aged

Male

Sequence Analysis, DNA

Polymorphism, Genetic

Phenotype

Aged, 80 and over

Adult

Female

Aged

Genetic Variation - genetics

Eye Proteins - genetics

Details

Title: Subtitle: Variations in the myocilin gene in patients with open-angle glaucoma
Creators: Wallace L M Alward - Department of Ophthalmology, University of Iowa College of Medicine, 200 Hawkins Dr, Iowa City, IA 52242, USA. edwin-stone@uiowa.edu
Young H Kwon
Cheryl L Khanna
A Tim Johnson
Sohan S Hayreh
M Bridget Zimmerman
Joanna Narkiewicz
Jeaneen L Andorf
Paula A Moore
John H Fingert
Val C Sheffield
Edwin M Stone
Resource Type: Journal article
Publication Details: Archives of ophthalmology (1960), Vol.120(9), pp.1189-1197
DOI: 10.1001/archopht.120.9.1189
PMID: 12215093
NLM abbreviation: Arch Ophthalmol
ISSN: 0003-9950
eISSN: 1538-3601
Publisher: American Medical Association; United States
Grant note: EY10564 / NEI NIH HHS
Language: English
Date published: 09/2002
Academic Unit: Stead Family Department of Pediatrics; The University of Iowa Institute for Vision Research; Iowa Neuroscience Institute; Biostatistics; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
Record Identifier: 9983980028102771

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