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Abstract #61710 Published in IGR 17-1
No Evidence of Association of Heterozygous Galactosylceramidase Deletion With Normal-Tension Glaucoma in a Korean Population
Shin HY; Park SW; Jung SH; Park HY; Jung KI; Chung YJ; Park CKJournal of Glaucoma 2016; 25: e504-e506
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.
*Department of Ophthalmology, Uijeongbu St. Mary's Hospital †Department of Microbiology, Intergrated Research Center for Genome Polymorphism ‡Department of Ophthalmology and Visual Science, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seocho-ku, Seoul, Korea.
Full articleClassification:
9.2.4 Normal pressure glaucoma (Part of: 9 Clinical forms of glaucomas > 9.2 Primary open angle glaucomas)
3.5 Molecular biology incl. SiRNA (Part of: 3 Laboratory methods)
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
