GLC1F, a new primary open-angle glaucoma locus, maps to 7q35-q36

Mary Wirtz, John R. Samples, Kristal Rust, Jennifer Lie, LeAnn Nordling, Karla Schilling, Ted Acott, Patricia L. Kramer

Research output: Contribution to journalArticle

160 Citations (Scopus)

Abstract

Background: A large family with adult-onset primary open-angle glaucoma (POAG) was identified. Objective: To initiate a genome-wide scan to map the POAG locus in this family. Methods: Blood samples or buccal swabs were obtained from 25 members of a large family with POAG after informed consent was obtained. Members and their spouses were evaluated clinically for POAG on the basis of intraocular pressures, cupping of discs, and visual fields. DNA samples were used for a genome-wide screen using microsatellite markers. Results: Ten affected family members in 4 generations showed evidence of POAG including intraocular pressures of 22 mm Hg or more, and/or optic cup-disc ratios of 0.6 or more, and/or visual field defects consistent with glaucomatous damage. Primary open-angle glaucoma segregated as an autosomal dominant trait, with the disease locus mapping to 7q35-q36 between markers D7S2442 and D7S483 with a multipoint lod score of 4.06. Conclusion: A sixth gene for POAG (GLC1F) has been mapped to 7q35-q36 in a family with at least 4 generations affected. Clinical Relevance: The mapping of this locus further confirms that primary open-angle glaucoma is a heterogeneous group of diseases with at least 6 different loci resulting in a similar phenotype. The eventual ability to classify which major POAG gene an affected person carries could have ramifications for selecting the most effective treatment regimen for that person.

Original languageEnglish (US)
Pages (from-to)237-241
Number of pages5
JournalArchives of Ophthalmology
Volume117
Issue number2
StatePublished - Feb 1999

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Visual Fields
Intraocular Pressure
Genome
Lod Score
Primary Open Angle Glaucoma
Aptitude
Cheek
Optic Disk
Informed Consent
Spouses
Microsatellite Repeats
Genes
Phenotype
DNA
Therapeutics

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Wirtz, M., Samples, J. R., Rust, K., Lie, J., Nordling, L., Schilling, K., ... Kramer, P. L. (1999). GLC1F, a new primary open-angle glaucoma locus, maps to 7q35-q36. Archives of Ophthalmology, 117(2), 237-241.

GLC1F, a new primary open-angle glaucoma locus, maps to 7q35-q36. / Wirtz, Mary; Samples, John R.; Rust, Kristal; Lie, Jennifer; Nordling, LeAnn; Schilling, Karla; Acott, Ted; Kramer, Patricia L.

In: Archives of Ophthalmology, Vol. 117, No. 2, 02.1999, p. 237-241.

Research output: Contribution to journalArticle

Wirtz, M, Samples, JR, Rust, K, Lie, J, Nordling, L, Schilling, K, Acott, T & Kramer, PL 1999, 'GLC1F, a new primary open-angle glaucoma locus, maps to 7q35-q36', Archives of Ophthalmology, vol. 117, no. 2, pp. 237-241.
Wirtz M, Samples JR, Rust K, Lie J, Nordling L, Schilling K et al. GLC1F, a new primary open-angle glaucoma locus, maps to 7q35-q36. Archives of Ophthalmology. 1999 Feb;117(2):237-241.
Wirtz, Mary ; Samples, John R. ; Rust, Kristal ; Lie, Jennifer ; Nordling, LeAnn ; Schilling, Karla ; Acott, Ted ; Kramer, Patricia L. / GLC1F, a new primary open-angle glaucoma locus, maps to 7q35-q36. In: Archives of Ophthalmology. 1999 ; Vol. 117, No. 2. pp. 237-241.
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