A Glaucoma Cae-control tudy of the WDR36 Gene D658G equence Variant

Purpoe To invetigate in Autralian patient with glaucoma and normal control the prevalence and aociated phenotype of the WDR36 D658G mutation, which ha previouly been uggeted to be a dieae-cauing mutation in pedigree with primary open-angle glaucoma (POAG). Deign Cae-control tudy. Method Two hundred forty-nine individual with POAG and 217 age-matched control ubject were recruited through the Glaucoma Inheritance tudy in Tamania, Autralia. Genomic DNA wa amplified by polymerae chain reaction by intronic primer. The preence of the D658G variant wa detected by BglI retriction enzyme digetion. Reult The D658G variant wa identified in four POAG cae (1.6%) and four control ubject (1.8%) (χ2 = 0.04, P = .84). No control ubject with the variant had a family hitory of glaucoma. Concluion The WDR36 D658G i a neutral variant in the Autralian population. Further population hould be carefully aeed for thi variant before concluding that WDR36 i a glaucoma gene.