Journal
NEUROBIOLOGY OF AGING
Volume 85, Issue -, Pages -Publisher
ELSEVIER SCIENCE INC
DOI: 10.1016/j.neurobiolaging.2019.05.009
Keywords
Early-onset Alzheimer's disease; APOE epsilon 4 non-carriers; Exome sequencing
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Funding
- National Research Foundation (NRF) of Korea - Korea government (MSIP) [NRF-2018R1A1A3A04079255]
- Korean Health Technology R&D Project, Ministry of Health & Welfare, and Republic of Korea [HI18C0335, HI18C1629, HI14C2746]
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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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