TY - JOUR
T1 - A Glaucoma Case-control Study of the WDR36 Gene D658G Sequence Variant
AU - Hewitt, A.W.
AU - Dimasi, D.P.
AU - Mackey, David
AU - Craig, J.E.
PY - 2006
Y1 - 2006
N2 - 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%) (chi(2) = 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.
AB - 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%) (chi(2) = 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.
U2 - 10.1016/j.ajo.2006.02.041
DO - 10.1016/j.ajo.2006.02.041
M3 - Article
C2 - 16876519
SN - 0002-9394
VL - 142
SP - 324
EP - 325
JO - American Journal of Ophthalmology
JF - American Journal of Ophthalmology
IS - 2
ER -
