ArticleScientific reports2022
Genome-wide association of polygenic risk extremes for Alzheimer's disease in the UK Biobank.
Article in Scientific reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers, 3 of them syntheses that pooled it.
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Who cites it
47 citing papers in PubMed, 3 syntheses or guidelines pooled it, 63 citations in OpenAlex.
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- Linking genomic and proteomic signatures to brain amyloid burden: insights from GR@ACE/DEGESCO.Functional & integrative genomics · 2025Pooled it
- Interaction Analysis Reveals Complex Genetic Associations with Alzheimer's Disease in theGenes · 2023Pooled it
- Integrative prediction of Alzheimer's disease and related dementias using multi-omics aging clocks and genetic data.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026Observational
- A Multi-Context Regulome-Wide Association Atlas for Genetic Studies of Aging Brain Disorders.medRxiv : the preprint server for health sciences · 2026Article
- A Genome-wide Association Study of Alzheimer's Disease and Dementia in a Large Multi-ancestry Military Cohort Identifies Many New Dementia-Associated Loci.medRxiv : the preprint server for health sciences · 2026Article
- Genetic drivers of progression in Alzheimer's disease are distinct from disease risk.Alzheimer's research & therapy · 2026Article
- Integrative machine learning approach to risk prediction for dementia and Alzheimer's disease.GeroScience · 2026Article
- Improved polygenic risk prediction for alzheimer's disease and related dementias using deep learning: age and APOE-stratified analysis.Alzheimer's research & therapy · 2026Article
- Alzheimer's Disease DNA Methylation Index (AD-DMI) and its Association with Late-Life Cognitive Function.NPJ dementia · 2026Article
- CSF proteomic quantitative trait loci mapping reveals genetic insights into Alzheimer's disease.Molecular neurodegeneration advances · 2026Article
- Alzheimer's disease prevention by flavonols and their analogs.The journal of prevention of Alzheimer's disease · 2026Review
- Sex-specific placental transcriptome alterations in late-onset preeclampsia reveal male-biased immune and metabolic dysregulation.Biology of sex differences · 2025Observational
- Genetic drivers of progression in Alzheimer's disease are distinct from disease risk.medRxiv : the preprint server for health sciences · 2025Article
- Distinct Co-methylation Patterns in African and European Populations and Their Genetic Associations.Genomics, proteomics & bioinformatics · 2025Article
- Matching Heterogeneous Cohorts by Projected Principal Components Reveals Two Novel Alzheimer's Disease-Associated Genes in the Hispanic Population.medRxiv : the preprint server for health sciences · 2025Article
- S-GMAS: Genome-Wide Mediation Analysis With Brain Subcortical Shape Mediators.Human brain mapping · 2025Article
- Novel early-onset Alzheimer-associated genes influence risk through dysregulation of glutamate, immune activation, and intracellular signaling pathways.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Article
- Complex genetic interactions affect susceptibility to Alzheimer's disease risk in the BIN1 and MS4A6A loci.GeroScience · 2025Article
- COVID-19 infection and longevity: an observational and mendelian randomization study.Journal of translational medicine · 2025Observational
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6 authors at 2 institutions in 1 country.
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Abstract
In just over a decade, advances in genome-wide association studies (GWAS) have offered an approach to stratify individuals based on genetic risk for disease. Using recent Alzheimer's disease (AD) GWAS results as the base data, we determined each individual's polygenic risk score (PRS) in the UK Biobank dataset. Using individuals within the extreme risk distribution, we performed a GWAS that is agnostic of AD phenotype and is instead based on known genetic risk for disease. To interpret the functions of the new risk factors, we conducted phenotype analyses, including a phenome-wide association study. We identified 246 loci surpassing the significance threshold of which 229 were not reported in the base AD GWAS. These include loci that showed suggestive levels of association in the base GWAS and loci not previously suspected to be associated with AD. Among these, there are loci, such as IL34 and KANSL1, that have since been shown to be associated with AD in recent studies. We also show highly significant genetic correlations with multiple health-related outcomes that provide insights into prodromal symptoms and comorbidities. This is the first study to utilize PRS as a phenotype-agnostic group classification in AD genetic studies. We identify potential new loci for AD and detail phenotypic analysis of these PRS extremes.
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