title: No Evidence of Association of Heterozygous Galactosylceramidase Deletion With Normal-Tension Glaucoma in a Korean Population.
abstract: 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.
authors.affiliation: *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.
authors.forename: Hye-Young
authors.initials: HY
authors.lastname: Shin
authors.forename: Sung-Won
authors.initials: SW
authors.lastname: Park
authors.forename: Seung-Hyun
authors.initials: SH
authors.lastname: Jung
authors.forename: Hae-Young Lopilly
authors.initials: HY
authors.lastname: Park
authors.forename: Kyoung-In
authors.initials: KI
authors.lastname: Jung
authors.forename: Yeun-Jun
authors.initials: YJ
authors.lastname: Chung
authors.forename: Chan Kee
authors.initials: CK
authors.lastname: Park
mesh_terms: D000368:Aged; D056915:DNA Copy Number Variations; D017931:DNA Primers / Q000737:chemistry; D005260:Female; D005698:Galactosylceramidase / Q000235:genetics*; D017353:Gene Deletion; D060005:Genotyping Techniques; D006801:Humans; D007429:Intraocular Pressure; D057066:Low Tension Glaucoma / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D056910:Republic of Korea
chemical_list: D017931:DNA Primers; D005698:Galactosylceramidase