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Analysis of dementia-related gene variants in APOE ε4 noncarrying Korean patients with early-onset Alzheimer's diseaseAnalysis of dementia-related gene variants in <i>APOE</i> ε4 noncarrying Korean patients with early-onset Alzheimer's disease
- Other Titles
- Analysis of dementia-related gene variants in <i>APOE</i> ε4 noncarrying Korean patients with early-onset Alzheimer's disease
- Authors
- Park, Jong Eun; Kim, Hee Jin; Kim, Young-Eun; Jang, Hyemin; Cho, Soo Hyun; Kim, Seung Joo; Na, Duk L.; Won, Hong-Hee; Ki, Chang-Seok; Seo, Sang Won
- Issue Date
- Jan-2020
- Publisher
- Elsevier BV
- Keywords
- Early-onset Alzheimer's disease; APOE epsilon 4 non-carriers; Exome sequencing
- Citation
- Neurobiology of Aging, v.85
- Indexed
- SCIE
SCOPUS
- Journal Title
- Neurobiology of Aging
- Volume
- 85
- ISSN
- 0197-4580
1558-1497
- 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.
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