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

ABSTRACT:

Introduction

The functional study of genetic risk factors for Alzheimer's disease (AD) provides insights into the underlying mechanisms and identification of potential therapeutic targets. Investigating AD-associated genetic loci identified in East Asian populations using single-nucleus RNA-sequencing data may identify novel functional genetic contributors.

Methods

Cell type-specific expression quantitative trait loci (eQTL) and peak-to-gene links were used to identify functional genes associated with 26 genetic loci from seven genome-wide association studies (GWAS) for AD in East Asians.

Results

KCNJ6 and MAPK1IP1L were identified as significant eQTLs with AD risk loci. AD risk loci were in peaks related to four genes, with CLIC4 being connected across different cell

SUBMITTER: Cho M 

PROVIDER: S-EPMC11848548 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature