Journal of glaucoma · 2016
No Evidence of Association of Heterozygous Galactosylceramidase Deletion With Normal-Tension Glaucoma in a Korean Population.
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Shin Hye-Young, Park Sung-Won, Jung Seung-Hyun, Park Hae-Young Lopilly, Jung Kyoung-In, Chung Yeun-Jun, Park Chan Kee
Аннотация
PURPOSE: 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.
METHODS: 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).
RESULTS: We did not identify any deletion variant of GALC gene in the NTG patients.
CONCLUSIONS: 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.
METHODS: 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).
RESULTS: We did not identify any deletion variant of GALC gene in the NTG patients.
CONCLUSIONS: 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.