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No Evidence of Association of Heterozygous Galactosylceramidase Deletion With Normal-Tension Glaucoma in a Korean Population

작성자
pmrc
작성일
2018-05-16 22:07
조회
281
Shin, H. Y., Park, S. W., Jung, S. H., Park, H. Y. L., Jung, K. I., Chung, Y. J., & Park, C. K. (2015). No Evidence of Association of Heterozygous Galactosylceramidase Deletion With Normal-Tension Glaucoma in a Korean Population. Journal of glaucoma, 25(5), E504-506.

IF(2014): 2.106

Abstract

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.