| 발표일자: |
2015년 11월 6일(금) ~ 11월 8일(일) |
| 발표번호: |
P(e-poster)-002 |
| 발표장소: |
킨텍스 제2전시장 7B홀 |
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| No Evidence of Association of Heterozygous Galactosylceramidase deletion with Normal Tension Glaucoma in a Korean Population |
| 가톨릭대학교 의과대학 안과 및 시과학교실 |
| 신혜영, 박성원, 정승현, 박혜영, 정경인, 정연준, 박찬기 |
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목적 : A significant association between primary open angle glaucoma (POAG) risk and copy number variation (CNV) 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.
방법 : A three-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).
결과 : We did not identify any deletion variant of GALC gene in the NTG patients.
결론 : This is the first CNV 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 Caucasians.
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