Analysis of dementia-related gene variants in APOE ε4 noncarrying Korean patients with early-onset Alzheimer's disease

Jong Eun Park, Hee Jin Kim, Young Eun Kim, Hyemin Jang, Soo Hyun Cho, Seung Joo Kim, Duk L. Na, Hong Hee Won, Chang Seok Ki, Sang Won Seo

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Abstract

There is a genetic overlap among various neurodegenerative diseases that cause dementia. We analyzed dementia-related gene variants in 60 apolipoprotein E ε4 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 ε4 noncarrying Korean patients with early-onset Alzheimer's disease.

Original languageEnglish
Pages (from-to)155.e5-155.e8
JournalNeurobiology of Aging
Volume85
DOIs
StatePublished - 2020 Jan

Keywords

  • APOE ε4 non-carriers
  • Early-onset Alzheimer's disease
  • Exome sequencing

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    Park, J. E., Kim, H. J., Kim, Y. E., Jang, H., Cho, S. H., Kim, S. J., Na, D. L., Won, H. H., Ki, C. S., & Seo, S. W. (2020). Analysis of dementia-related gene variants in APOE ε4 noncarrying Korean patients with early-onset Alzheimer's disease. Neurobiology of Aging, 85, 155.e5-155.e8. https://doi.org/10.1016/j.neurobiolaging.2019.05.009