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

journal contribution
posted on 2023-05-16, 18:24 authored by Alexander HewittAlexander Hewitt, Dimasi, DP, David MackeyDavid Mackey, Craig, JE

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.

History

Publication title

American Journal of Ophthalmology

Volume

142

Pagination

324-325

ISSN

0002-9394

Department/School

Tasmanian School of Medicine

Publisher

Elsevier Science Inc

Place of publication

USA

Repository Status

  • Restricted

Socio-economic Objectives

Clinical health not elsewhere classified

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