--- title: "Genetic Studies of Alzheimer’s Disease in Korea" id: "7177" type: "study" slug: "sa000056" published_at: "2024-11-27T16:15:52+00:00" modified_at: "2026-03-26T16:12:31+00:00" url: "https://dss.niagads.org/studies/sa000056/" markdown_url: "https://dss.niagads.org/studies/sa000056.md" excerpt: "Alzheimer disease (AD), the most common neurodegenerative disease in the world, affects individuals of all races and ethnicities; however, most research about factors contributing to risk of AD has been performed in EA individuals with a limited number of large-scale..." --- ## Description Alzheimer disease (AD), the most common neurodegenerative disease in the world, affects individuals of all races and ethnicities; however, most research about factors contributing to risk of AD has been performed in EA individuals with a limited number of large-scale genetic studies in other populations. Trans-ethnic studies have shown that population differences in genetic background and exposure to other risk factors and diseases (collectively referred to here as ‘environment’), can be leveraged to make novel discoveries that might require a sample size several orders of magnitude larger to achieve similar success studying a single population. Here, we propose to elucidate the genetic architecture for AD in Koreans, a relatively genetically homogenous population. WGS data generated for this study will be particularly valuable both for validation of ADSP findings and discovery of novel risk and/or protective variants for AD when combined with ADSP EA and other non-EA populations including ethnic minorities in the United States. The dataset contains WGS data from participants of the Gwangju Alzheimer’s and Related Dementias (GARD) Study and from other persons who were ascertained at several hospitals in the Republic of Korea who were diagnosed as Alzheimer disease (AD) or control using NIA-AA criteria. The total WGS sample of 4,000 individuals includes slightly more AD cases than controls. The dataset includes variables for age at onset (AD cases) or age at exam (controls) and sex. ## PI Lindsay Farrer *Boston University* Kunho Lee *Chosun University, Gwangju, South Korea* ## Associated Datasets - [NG00067 - ADSP Umbrella](https://dss.niagads.org/datasets/ng00067/) This dataset includes sequencing data and harmonized phenotypes from cohorts sequenced by the Alzheimer’s Disease Sequencing Project and other AD and Related Dementia’s studies. Samples are processed using a common… [Learn more](https://dss.niagads.org/datasets/ng00067/) ## Associated Sample Sets - [snd10092 - GARD1 WGS](https://dss.niagads.org/sample-sets/snd10092/) This sample dataset was collected from the GARD cohort. 2,002 participants and 5 replicates were sequenced by DNALINK using Illumina NovaSeq 6000 sequencing technology. FASTQ and CRAM files were sent… [Learn more](https://dss.niagads.org/sample-sets/snd10092/) ## Cohorts - [Estudio Familiar de Influencia Genetica en Alzheimer (EFIGA)](https://dss.niagads.org/cohorts/estudio-familiar-de-influencia-genetica-en-alzheimer-efiga/) Estudio Familiar de Influencia Genetica en Alzheimer (EFIGA) included 683 at-risk family members from 242 AD-affected families of Caribbean Hispanic descent. These families have 2 or more individuals affected with Alzheimer’s… [Learn more](https://dss.niagads.org/cohorts/estudio-familiar-de-influencia-genetica-en-alzheimer-efiga/) - [Gwangju Alzheimer's and Related Dementia (GARD)](https://dss.niagads.org/cohorts/gwangju-alzheimers-and-related-dementia-gard/) The Gwangju Alzheimer’s and Related Dementias (GARD) Cohort is a prospectively followed sample of persons in a senior citizen’s community located in the South Korean southwestern city of Gwangju. A large portion… [Learn more](https://dss.niagads.org/cohorts/gwangju-alzheimers-and-related-dementia-gard/) - [National Centralized Repository for Alzheimer’s Disease and Related Dementias Family (NCRAD Family)](https://dss.niagads.org/cohorts/national-centralized-repository-for-alzheimers-disease-and-related-dementias-family-ncrad-family/) The National Centralized Repository for Alzheimer’s Disease and Related Dementias (NCRAD) family cohort was started in 1990 and consists of families with two or more members with early or late… [Learn more](https://dss.niagads.org/cohorts/national-centralized-repository-for-alzheimers-disease-and-related-dementias-family-ncrad-family/) ## Grants This research was supported by the Original Research Program for Brain Science of the National Research Foundation (NRF) funded by the Korean government, MSIT (NRF-2014M3C7A1046041 and NRF-2014M3C7A1046042); by KBRI basic research program through Korea Brain Research Institute funded by the Ministry of Science and ICT (23-BR-03-05); by Healthcare AI Convergence Research & Development Program through the National IT Industry Promotion Agency of Korea (NIPA) funded by the Ministry of Science and ICT (No.1711120216)**;**by National Institute on Aging grant U01-AG062602**.** ## 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 Genetic Studies of Alzheimer’s Disease in Korea data: This research was supported by the Original Technology[HW1] [LF2] Research Program for Brain Science of the National Research Foundation (NRF) funded by the Korean government, MSIT (NRF-2014M3C7A1046041 and NRF-2014M3C7A1046042); by KBRI basic research program through Korea Brain Research Institute funded by the Ministry of Science and ICT (23-BR-03-05); by Healthcare AI Convergence Research & Development Program through the National IT Industry Promotion Agency of Korea (NIPA) funded by the Ministry of Science and ICT (No.1711120216)**;**by National Institute on Aging grant U01-AG062602**.** ## Publications - Park JE. **Cerebrospinal Fluid Biomarkers for the Diagnosis of Prodromal Alzheimer's Disease in Amnestic Mild Cognitive Impairment.***Dementia and geriatric cognitive disorders extra. 2019 Jan-Apr.*[PubMed link](https://pubmed.ncbi.nlm.nih.gov/31011328/) - Seo S. **SNP genotype calling and quality control for multi-batch-based studies.***Genes & genomics. 2019 Aug.*[PubMed link](https://pubmed.ncbi.nlm.nih.gov/31062262/) - Choi KY. **APOE Promoter Polymorphism-219T/G is an Effect Modifier of the Influence of APOE ε4 on Alzheimer's Disease Risk in a Multiracial Sample.***Journal of clinical medicine. 2019 Aug 16.*[PubMed link](https://pubmed.ncbi.nlm.nih.gov/31426376/) - Choi YY. **The Aging Slopes of Brain Structures Vary by Ethnicity and Sex: Evidence From a Large Magnetic Resonance Imaging Dataset From a Single Scanner of Cognitively Healthy Elderly People in Korea.***Frontiers in aging neuroscience. 2020.*[PubMed link](https://pubmed.ncbi.nlm.nih.gov/32903525/) - Kang S. **Potential Novel Genes for Late-Onset Alzheimer's Disease in East-Asian Descent Identified by APOE-Stratified Genome-Wide Association Study.***Journal of Alzheimer's disease : JAD. 2021.*[PubMed link](https://pubmed.ncbi.nlm.nih.gov/34151794/) - Choi YY. **Multi-Racial Normative Data for Lobar and Subcortical Brain Volumes in Old Age: Korean and Caucasian Norms May Be Incompatible With Each Other(†).***Frontiers in aging neuroscience. 2021.*[PubMed link](https://pubmed.ncbi.nlm.nih.gov/34413763/) - Seo EH. **Visuospatial memory impairment as a potential neurocognitive marker to predict tau pathology in Alzheimer's continuum.***Alzheimer's research & therapy. 2021 Oct 9.*[PubMed link](https://pubmed.ncbi.nlm.nih.gov/34627371/) - Park JY. **A missense variant in SHARPIN mediates Alzheimer's disease-specific brain damages.***Translational psychiatry. 2021 Nov 16.*[PubMed link](https://pubmed.ncbi.nlm.nih.gov/34785643/) - Jeong EA. **Tonicity-responsive enhancer-binding protein promotes diabetic neuroinflammation and cognitive impairment via upregulation of lipocalin-2.***Journal of neuroinflammation. 2021 Nov 29.*[PubMed link](https://pubmed.ncbi.nlm.nih.gov/34844610/) - Kim Y. **Plasma protein biomarker model for screening Alzheimer disease using multiple reaction monitoring-mass spectrometry.***Scientific reports. 2022 Jan 24.*[PubMed link](https://pubmed.ncbi.nlm.nih.gov/35075217/) - Kim J. **Novel diagnostic tools for identifying cognitive impairment using olfactory-stimulated functional near-infrared spectroscopy: patient-level, single-group, diagnostic trial.***Alzheimer's research & therapy. 2022 Mar 8.*[PubMed link](https://pubmed.ncbi.nlm.nih.gov/35260170/) - Doan DNT. **Segmental Bioimpedance Variables in Association With Mild Cognitive Impairment.***Frontiers in nutrition. 2022.*[PubMed link](https://pubmed.ncbi.nlm.nih.gov/35719147/) - Lim EC. **DeepParcellation: A novel deep learning method for robust brain magnetic resonance imaging parcellation in older East Asians.***Frontiers in aging neuroscience. 2022.*[PubMed link](https://pubmed.ncbi.nlm.nih.gov/36570529/) - Lee Y. **Heritability of cognitive abilities and regional brain structures in middle-aged to elderly East Asians.***Cerebral cortex (New York, N.Y. : 1991). 2023 May 9.*[PubMed link](https://pubmed.ncbi.nlm.nih.gov/36642501/)