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A Glaucoma case-control study of the WDR36 gene D658G sequence variant


Hewitt, AW and Dimasi, DP and Mackey, DA and Craig, JE, A Glaucoma case-control study of the WDR36 gene D658G sequence variant, American Journal of Ophthalmology, 142, (2) pp. 324-325. ISSN 0002-9394 (2006) [Refereed Article]

DOI: doi:10.1016/j.ajo.2006.02.041


Purpose: To investigate in Australian patients with glaucoma and normal controls the prevalence and associated phenotype of the WDR36 D658G mutation, which has previously been suggested to be a disease-causing mutation in pedigrees with primary open-angle glaucoma (POAG).

Design: Case-control study.

Methods: Two hundred forty-nine individuals with POAG and 217 age-matched control subjects were recruited through the Glaucoma Inheritance Study in Tasmania, Australia. Genomic DNA was amplified by polymerase chain reaction by intronic primers. The presence of the D658G variant was detected by BglI restriction enzyme digestion.

Results: The D658G variant was identified in four POAG cases (1.6%) and four control subjects (1.8%) (χ2 = 0.04, P = .84). No control subject with the variant had a family history of glaucoma.

Conclusions: The WDR36 D658G is a neutral variant in the Australian population. Further populations should be carefully assessed for this variant before concluding that WDR36 is a glaucoma gene.

Item Details

Item Type:Refereed Article
Research Division:Biomedical and Clinical Sciences
Research Group:Ophthalmology and optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Hewitt, AW (Professor Alex Hewitt)
UTAS Author:Mackey, DA (Professor David Mackey)
ID Code:41604
Year Published:2006
Web of Science® Times Cited:51
Deposited By:Medicine
Deposited On:2006-08-01
Last Modified:2014-10-08

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