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Abstract #13965 Published in IGR 8-3
A glaucoma case-control study of the WDR36 Gene D658G sequence variant
Hewitt AW; Dimasi DP; Mackey DA; Craig JEAmerican Journal of Ophthalmology 2006; 142: 324-325
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.
Dr. A.W. Hewitt, Department of Ophthalmology, Flinders Medical Centre, Flinders University, Bedford Park, South Australia 5042, Australia
Classification:
3.4.1 Linkage studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
