# Genetic Studies of Alzheimer Disease in Koreans

> **NIH NIH U01** · BOSTON UNIVERSITY MEDICAL CAMPUS · 2021 · $1,315,853

## Abstract

ABSTRACT
Most discoveries of the genetic basis of Alzheimer disease (AD) were made in Caucasians of European ancestry
(EAs) and required samples between 10,000 and 75,000 subjects to detect them. We and others have
demonstrated that risk variants for AD can be identified in ethnic groups of a more homogeneous genetic
background using samples comprising several thousand or fewer subjects. Studies of non-EA populations also
afford the opportunity to discover variants that are rare or display a smaller effect size in EAs due to modification
by other genes and environmental factors. We will direct our efforts to Koreans, a population which has a high
prevalence of AD, but, like other East Asian populations, have not been included in large DNA sequencing
studies and for whom little is known about the genetic basis of AD other than association with APOE. They have
maintained a distinct genetic profile that reflects a unique component resulting from genetic drift and new
mutations during the last two millennia. We will leverage the genetic architecture of Koreans to promote discovery
of AD-related genes and variants by studying rare and common genetic variation, and the impact of AD-
associated variants on gene expression. To accomplish our scientific goals, we will study AD cases and controls
who are ascertained and followed longitudinally at the National Center for Research on Dementia at Chosun
University located in the southwestern city of Gwangju, Republic of Korea, and obtain from each participant a
blood specimen and phenotypic data including clinical exam, demographic, medical history and lifestyle
information. In addition, most subjects will undergo an extensive neuropsychological test battery developed
specifically for Koreans and a brain MRI scan. The cohort will comprise an unrelated group of 2,000 AD cases
and 2,000 elderly controls ascertained from existing patient registries and prospectively identified subjects all of
whom will have GWAS data available generated using a microarray designed for Koreans. DNA specimens from
all subjects will be whole genome sequenced (WGS). WGS data will be processed using pipelines established
by the Alzheimer Disease Sequencing Project. We will conduct a genome-wide association study for AD using
methods for single variant and gene-based tests based on models that adjust for age, sex and population
substructure. Top-findings will be replicated in datasets of other ethnicities assembled by the Genomics Center
for Alzheimer Disease for the Alzheimer Disease Sequencing Project using trans-ethnic analysis and approaches
that focus on variants affecting protein structure, transcription, and gene expression. Next we will perform a
GWAS for age at onset and brain imaging and cognitive endophenotypes. Finally, we will identify gene targets
of the top-ranked SNPs by performing expression quantitative trait locus analysis using public datasets
containing genotype and gene expression data in brain and other tissues,...

## Key facts

- **NIH application ID:** 10242783
- **Project number:** 5U01AG062602-03
- **Recipient organization:** BOSTON UNIVERSITY MEDICAL CAMPUS
- **Principal Investigator:** Lindsay A. Farrer
- **Activity code:** U01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $1,315,853
- **Award type:** 5
- **Project period:** 2019-09-15 → 2024-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10242783

## Citation

> US National Institutes of Health, RePORTER application 10242783, Genetic Studies of Alzheimer Disease in Koreans (5U01AG062602-03). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/10242783. Licensed CC0.

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