ArticleFrontiers in aging neuroscience2022
Phenome-Wide Association Study of Polygenic Risk Score for Alzheimer's Disease in Electronic Health Records.
Article in Frontiers in aging neuroscience, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 2 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
7 citing papers in PubMed, 2 syntheses or guidelines pooled it, 13 citations in OpenAlex.
- Evaluating the Bidirectional Causal Effects of Alzheimer's Disease Across Multiple Conditions: A Systematic Review and Meta-Analysis of Mendelian Randomization Studies.International journal of molecular sciences · 2025Pooled it
- Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome.Translational psychiatry · 2023Pooled it
- Exploring beyond diagnoses in electronic health records to improve discovery: a review of the phenome-wide association study.JAMIA open · 2025Review
- Research Advance of Causal Inference in Clinical Medicine: A Bibliometrics Analysis via Citespace.Journal of multidisciplinary healthcare · 2025Review
- Balancing the efforts of chart review and gains in PRS prediction accuracy: An empirical study.Journal of biomedical informatics · 2024Article
- Improving genetic risk modeling of dementia from real-world data in underrepresented populations.Communications biology · 2024Article
- Discovery of Drug-Responsive Phenomic Alteration-Related Driver Genes in the Treatment of Coronary Heart Disease.Pharmacogenomics and personalized medicine · 2023Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Alzheimer's disease (AD) is the most common form of dementia and a growing public health burden in the United States. Significant progress has been made in identifying genetic risk for AD, but limited studies have investigated how AD genetic risk may be associated with other disease conditions in an unbiased fashion. In this study, we conducted a phenome-wide association study (PheWAS) by genetic ancestry groups within a large academic health system using the polygenic risk score (PRS) for AD. PRS was calculated using LDpred2 with genome-wide association study (GWAS) summary statistics. Phenotypes were extracted from electronic health record (EHR) diagnosis codes and mapped to more clinically meaningful phecodes. Logistic regression with Firth's bias correction was used for PRS phenotype analyses. Mendelian randomization was used to examine causality in significant PheWAS associations. Our results showed a strong association between AD PRS and AD phenotype in European ancestry (OR = 1.26, 95% CI: 1.13, 1.40). Among a total of 1,515 PheWAS tests within the European sample, we observed strong associations of AD PRS with AD and related phenotypes, which include mild cognitive impairment (MCI), memory loss, and dementias. We observed a phenome-wide significant association between AD PRS and gouty arthropathy (OR = 0.90, adjusted
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