Functional insight into East Asian–specific genetic risk loci for Alzheimer's disease

Integrated functional analysis of Alzheimer's disease (AD) loci in seven East Asian genome-wide association studies (GWAS) was performed. Cell type-specific expression quantitative trait loci (eQTLs) and assay for transposase-accessible chromatin peaks were used to identify AD functional genes. An AD risk variant was linked to KCNJ6 through an oligodendrocyte progenitor cell-specific eQTL. An AD risk variant maps to open chromatin, linked to CLIC4 across six cell types. Astrocyte differentially expressed genes by AD pathology are enriched in East Asian and European GWAS genes.

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Publication Details

Journal
Alzheimer s & Dementia
Published
2025-02-01
DOI
https://doi.org/10.1002/alz.14553
Citations
5
Primary Topic
Bioinformatics and Genomic Networks
Type
article
Field-Weighted Citation Impact
4.03

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Functional insight into East Asian–specific genetic risk loci for Alzheimer's disease

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article

Functional insight into East Asian–specific genetic risk loci for Alzheimer's disease

Andrew J. Saykin, Tamina Park, Hong‐Hee Won, Minyoung Cho, Paula J. Bice, Thea Rosewood, Soumilee Chaudhuri, Kwangsik Nho, Shiwei Liu, Yen‐Ning Huang
article en
5 citations

Abstract

Integrated functional analysis of Alzheimer's disease (AD) loci in seven East Asian genome-wide association studies (GWAS) was performed. Cell type-specific expression quantitative trait loci (eQTLs) and assay for transposase-accessible chromatin peaks were used to identify AD functional genes. An AD risk variant was linked to KCNJ6 through an oligodendrocyte progenitor cell-specific eQTL. An AD risk variant maps to open chromatin, linked to CLIC4 across six cell types. Astrocyte differentially expressed genes by AD pathology are enriched in East Asian and European GWAS genes.

Alzheimer s & DementiaVol. 21(2)
Samsung (South Korea) (KR), Samsung Medical Center (KR), Indiana University Indianapolis (US), Indiana University School of Medicine, Indiana University – Purdue University Indianapolis (US), Sungkyunkwan University (KR)
U.S. Department of Defense, Alzheimer's Association, Eli Lilly and Company, Lilly Endowment, Alzheimer's Disease Neuroimaging Initiative, National Research Foundation, National Research Foundation of Korea, Ministry of Science and ICT, South Korea, National Institutes of Health, School of Medicine, Indiana University, National Institute on Aging, National Institute of General Medical Sciences, National Center for Advancing Translational Sciences
Good health and well-being
Openalex Percentile: Top 7%
Bioinformatics and Genomic Networks
4.03
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