ArticleTranslational psychiatry2021
Novel Alzheimer's disease risk variants identified based on whole-genome sequencing of APOE ε4 carriers.
Article in Translational psychiatry, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 2 of them syntheses that pooled it.
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Who cites it
19 citing papers in PubMed, 2 syntheses or guidelines pooled it, 31 citations in OpenAlex.
- Meta-Analysis of Transcriptomic Studies of Blood and Six Brain Regions Identifies a Consensus of 15 Cross-Tissue Mechanisms in Alzheimer's Disease and Suggests an Origin of Cross-Study Heterogeneity.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2025Pooled it
- Finding memo: versatile interactions of the VPS10p-Domain receptors in Alzheimer's disease.Molecular neurodegeneration · 2022Pooled it
- Multi-ancestry multi-trait analysis reveals shared genetics across major psychiatric disorders and Alzheimer's disease.Translational psychiatry · 2026Article
- Whole-genome sequencing reveals an East Asian-specific rare variant of INPP5J associated with Alzheimer's disease.Translational psychiatry · 2026Article
- Article
- Molecular signatures of resilience to Alzheimer's disease in neocortical layer 4 neurons.Nature communications · 2026Article
- The genetic landscape of early-onset Alzheimer's disease in China.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Article
- Whole-genome sequencing study in Koreans identifies novel loci for Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Article
- Biomarkers of neurodegeneration across the Global South.The lancet. Healthy longevity · 2024Review
- Admixture mapping of cognitive function in diverse Hispanic and Latino adults: Results from the Hispanic Community Health Study/Study of Latinos.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Article
- Predictive Models for the Transition from Mild Neurocognitive Disorder to Major Neurocognitive Disorder: Insights from Clinical, Demographic, and Neuropsychological Data.Biomedicines · 2024Article
- Key variants via the Alzheimer's Disease Sequencing Project whole genome sequence data.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Article
- The Association of Selected GWAS Reported AD Risk Loci with CSF Biomarker Levels and Cognitive Decline in Slovenian Patients.International journal of molecular sciences · 2023Article
- Genetic architecture of plasma Alzheimer disease biomarkers.Human molecular genetics · 2023Article
- A global view of the genetic basis of Alzheimer disease.Nature reviews. Neurology · 2023Review
- Exploring the Genetic Predisposition to Epigenetic Changes in Alzheimer's Disease.International journal of molecular sciences · 2023Article
- Neutrophils as a potential therapeutic target in Alzheimer's disease.Frontiers in immunology · 2023Review
- A Fast and Robust Strategy to Remove Variant-Level Artifacts in Alzheimer Disease Sequencing Project Data.Neurology. Genetics · 2022Article
- The influence of 17q21.31 andFrontiers in aging neuroscience · 2022Review
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Authors and funding
27 authors at 12 institutions in 2 countries.
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Abstract
Alzheimer's disease (AD) is a progressive neurodegenerative disease associated with a complex genetic etiology. Besides the apolipoprotein E ε4 (APOE ε4) allele, a few dozen other genetic loci associated with AD have been identified through genome-wide association studies (GWAS) conducted mainly in individuals of European ancestry. Recently, several GWAS performed in other ethnic groups have shown the importance of replicating studies that identify previously established risk loci and searching for novel risk loci. APOE-stratified GWAS have yielded novel AD risk loci that might be masked by, or be dependent on, APOE alleles. We performed whole-genome sequencing (WGS) on DNA from blood samples of 331 AD patients and 169 elderly controls of Korean ethnicity who were APOE ε4 carriers. Based on WGS data, we designed a customized AD chip (cAD chip) for further analysis on an independent set of 543 AD patients and 894 elderly controls of the same ethnicity, regardless of their APOE ε4 allele status. Combined analysis of WGS and cAD chip data revealed that SNPs rs1890078 (P = 6.64E-07) and rs12594991 (P = 2.03E-07) in SORCS1 and CHD2 genes, respectively, are novel genetic variants among APOE ε4 carriers in the Korean population. In addition, nine possible novel variants that were rare in individuals of European ancestry but common in East Asia were identified. This study demonstrates that APOE-stratified analysis is important for understanding the genetic background of AD in different populations.
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