Functional insight into East Asian–specific genetic risk loci for Alzheimer's disease DOI Creative Commons
Minyoung Cho, Soumilee Chaudhuri, Shiwei Liu

и другие.

Alzheimer s & Dementia, Год журнала: 2025, Номер 21(2)

Опубликована: Фев. 1, 2025

Abstract INTRODUCTION The functional study of genetic risk factors for Alzheimer's disease (AD) provides insights into the underlying mechanisms and identification potential therapeutic targets. Investigating AD‐associated loci identified in East Asian populations using single‐nucleus RNA‐sequencing data may identify novel contributors. METHODS Cell type–specific expression quantitative trait (eQTL) peak‐to‐gene links were used to genes associated with 26 from seven genome‐wide association studies (GWAS) AD Asians. RESULTS KCNJ6 MAPK1IP1L as significant eQTLs loci. peaks related four genes, CLIC4 being connected across different cell types. Genes European GWAS interacted within networks enriched pathology pathways astrocytes. DISCUSSION Our findings suggest providing insight architecture Highlights Integrated analysis was performed. (eQTLs) assay transposase‐accessible chromatin genes. An variant linked through an oligodendrocyte progenitor cell–specific eQTL. maps open chromatin, six Astrocyte differentially expressed by are

Язык: Английский

Functional insight into East Asian–specific genetic risk loci for Alzheimer's disease DOI Creative Commons
Minyoung Cho, Soumilee Chaudhuri, Shiwei Liu

и другие.

Alzheimer s & Dementia, Год журнала: 2025, Номер 21(2)

Опубликована: Фев. 1, 2025

Abstract INTRODUCTION The functional study of genetic risk factors for Alzheimer's disease (AD) provides insights into the underlying mechanisms and identification potential therapeutic targets. Investigating AD‐associated loci identified in East Asian populations using single‐nucleus RNA‐sequencing data may identify novel contributors. METHODS Cell type–specific expression quantitative trait (eQTL) peak‐to‐gene links were used to genes associated with 26 from seven genome‐wide association studies (GWAS) AD Asians. RESULTS KCNJ6 MAPK1IP1L as significant eQTLs loci. peaks related four genes, CLIC4 being connected across different cell types. Genes European GWAS interacted within networks enriched pathology pathways astrocytes. DISCUSSION Our findings suggest providing insight architecture Highlights Integrated analysis was performed. (eQTLs) assay transposase‐accessible chromatin genes. An variant linked through an oligodendrocyte progenitor cell–specific eQTL. maps open chromatin, six Astrocyte differentially expressed by are

Язык: Английский

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