A significant association between primary open-angle glaucoma risk and copy-number variation in the galactosylceramidase (GALC) gene was reported recently. This study investigated whether a heterozygous deletion of the GALC gene plays a significant role in normal-tension glaucoma (NTG) in Koreans.
A 3-primer polymerase chain reaction assay was used to examine the heterozygous deletion of GALC in all Korean NTG cases (n=276) and controls (n=135).
We did not identify any deletion variant of GALC gene in the NTG patients.
This is the first copy-number variation study of the GALC gene in the Korean population with NTG. We demonstrated that a heterozygous GALC deletion does not play a significant role in the pathogenesis of NTG in a representative clinic-based population of South Koreans, unlike whites.