Analysis of dementia-related gene variants in APOE ε4 noncarrying Korean patients with early-onset Alzheimer's disease.
- Title
- Analysis of dementia-related gene variants in APOE ε4 noncarrying Korean patients with early-onset Alzheimer's disease.
- Author
- 김영은
- Keywords
- Early-onset Alzheimer's disease; APOE epsilon 4 non-carriers; Exome sequencing
- Issue Date
- 2020-01
- Publisher
- ELSEVIER SCIENCE INC
- Citation
- NEUROBIOLOGY OF AGING, v. 85
- Abstract
- There is a genetic overlap among various neurodegenerative diseases that cause dementia. We analyzed dementia-related gene variants in 60 apolipoprotein E epsilon 4 non-carrying Korean patients with early-onset Alzheimer's disease. Thirty-one dementia-related genes were screened by exome sequencing. Among the 60 patients, three likely pathogenic variants (LPVs) and 1 variant of uncertain significance (VUS) were identified in PSEN1. In addition, two LPVs in TYROBP (c.141del) and PINK1 (c.1220G>A) and 17 VUS were found in other dementia-causing genes. Two variants in SORL1 and TREM2 were identified that were associated with Alzheimer's disease. In this study, we identified 5 (8.3%) LPVs and 18 (30%) VUSs in known dementia-related genes in apolipoprotein E epsilon 4 noncarrying Korean patients with early-onset Alzheimer's disease. (C) 2019 Elsevier Inc. All rights reserved.
- URI
- https://www.sciencedirect.com/science/article/pii/S0197458019301447?via%3Dihubhttps://repository.hanyang.ac.kr/handle/20.500.11754/161108
- ISSN
- 0197-4580; 1558-1497
- DOI
- 10.1016/j.neurobiolaging.2019.05.009
- Appears in Collections:
- COLLEGE OF MEDICINE[S](의과대학) > MEDICINE(의학과) > Articles
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