---
title: "Whole-genome sequencing study in Koreans identifies novel loci for Alzheimer’s disease – Kang et al., 2024"
id: "8416"
type: "study"
slug: "sa000073"
published_at: "2025-08-12T17:34:52+00:00"
modified_at: "2026-03-26T16:42:06+00:00"
url: "https://dss.niagads.org/studies/sa000073/"
markdown_url: "https://dss.niagads.org/studies/sa000073.md"
excerpt: "South Korea, one of the most rapidly aging populations in the world, has a high incidence and prevalence of Alzheimer’s disease (AD) among individuals aged 65 years or older. Like other East Asian countries, the number of AD cases in..."
---

## Description

South Korea, one of the most rapidly aging populations in the world, has a high incidence and prevalence of Alzheimer’s disease (AD) among individuals aged 65 years or older. Like other East Asian countries, the number of AD cases in Korea is expected to increase enormously in a few decades. Unfortunately, only a few genome-wide association studies (GWAS) using variants genotyped by microarrays, imputed with population reference panels, or called by next-generation sequencing have included Koreans, so a large portion of the genetic basis of AD still needs to be unveiled. We included 3,540 Koreans aged 60 years or older (1,583 AD cases, 1,957 controls) having whole-genome sequencing (WGS) data to identify genetic associations with AD. We also included 2,978 Japanese aged 65 years or older (1,336 AD cases, 1,642 controls) having single nucleotide polymorphism (SNP) array data, imputed using the TOPMed reference panel aligned to GRCh38, to enhance the findings in an enlarged East Asian dataset. GWAS were conducted using the WGS data (minor allele count ≥ 10, call rate > 0.95) and the SNP array data (minor allele frequency > 0.01, call rate > 0.95) separately and were combined using the inverse variance weighted approach implemented in METAL.

## PI

Moonil Kang  
 *Boston University*

Kun Ho Lee  
 *Chosun University*

Lindsay A. Farrer  
 *Boston University*

## Associated Datasets

- [NG00182 – GARD GWAS Summary Statistics – Kang et al., 2024](https://dss.niagads.org/datasets/ng00182/) This dataset contains GWAS summary statistics derived from single-variant association tests for WGS data (minor allele count ≥ 10, call rate > 0.95) from 3,540 Koreans aged 60 years or… [Learn more](https://dss.niagads.org/datasets/ng00182/)

## Grants

U01-AG062602, R01-AG048927, U01-AG032984, U01-AG058654, U54-AG052427, U19-AG068753, U01-AG081230, P30-AG072978, P30AG10161, R01AG15819, R01AG17917, R01AG30146, R01AG36042, RC2AG036547, R01AG36836, R01AG48015, RF1AG57473, U01AG32984, U01AG46152, U01AG46161, U01AG61356

## Acknowledgement

### Acknowledgment statement for any data distributed by NIAGADS:

Data for this study were prepared, archived, and distributed by the National Institute on Aging Alzheimer's Disease Data Storage Site (NIAGADS) at the University of Pennsylvania (U24-AG041689), funded by the National Institute on Aging.

### For investigators using Whole-genome sequencing study in Koreans identifies novel loci for Alzheimer’s disease – Kang et al., 2024 data:

GWAS data for the JGSCAD cohort were obtained from the Alzheimer’s Disease Genetics Consortium, which is funded by National Institute on Aging (NIA) grant U01-AG032984. Gene expression data were provided by the Rush Alzheimer’s Disease Center, Rush University Medical Center, Chicago, IL, USA. Data collection was supported through funding by NIA grants P30AG10161 (ROS), R01AG15819 (ROSMAP; genomics and RNAseq), R01AG17917 (MAP), R01AG30146, R01AG36042 (5hC methylation, ATACseq), RC2AG036547 (H3K9A), R01AG36836 (RNAseq), R01AG48015 (monocyte RNAseq), RF1AG57473 (single-nucleus RNAseq), U01AG32984 (genomic and whole-exome sequencing), U01AG46152 (ROSMAP AMP-AD, targeted proteomics), U01AG46161 (TMT proteomics), U01AG61356 (whole-genome sequencing, targeted proteomics, ROSMAP AMP-AD), the Illinois Department of Public Health (ROSMAP), and the Translational Genomics Research Institute (genomic). Additional phenotypic data can be requested at www.radc.rush.edu. This study was supported by NIA grants U01-AG062602, R01-AG048927, U01-AG032984, U01-AG058654, U54-AG052427, U19-AG068753, U01-AG081230, P30-AG072978. This study was supported by the KBRI Basic Research Program through the Korea Brain Research Institute, funded by the Ministry of Science and ICT of the Korean government (24-BR-03-05).

## Publications

- Kang M. **Whole-genome sequencing study in Koreans identifies novel loci for Alzheimer's disease.***Alzheimer's & dementia : the journal of the Alzheimer's Association. 2024 Dec.*[PubMed link](https://pubmed.ncbi.nlm.nih.gov/39428694/)