Evidence map›Paper›PMID 36624143›Full record

ArticleScientific reports2023

Explainable machine learning aggregates polygenic risk scores and electronic health records for Alzheimer's disease prediction.

Xiaoyi Raymond Gao, Marion Chiariglione, Ke Qin, Karen Nuytemans, Douglas W Scharre, Yi-Ju Li, Eden R Martin

Open access · goldAbstract read
In one paragraph

Article in Scientific reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
25citing papers in PubMed, 1 pooled it
7.0field-weighted citation impact, top 2% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

25 citing papers in PubMed, 1 synthesis or guideline pooled it, 40 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. Article
  6. Genetic risk in Alzheimer's disease.NPJ systems biology and applications · 2026
    Review
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  8. Article
  9. Article
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  15. Review
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  19. Assessing polyomic risk to predict Alzheimer's disease using a machine learning model.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024
    Article
  20. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors at 4 institutions in 1 country.

Xiaoyi Raymond GaoDepartment of Ophthalmology and Visual Sciences, The Ohio State University, Columbus, OH, USA. raymond.gao@osumc.edu.
Marion ChiariglioneDepartment of Ophthalmology and Visual Sciences, The Ohio State University, Columbus, OH, USA.
Ke QinDepartment of Ophthalmology and Visual Sciences, The Ohio State University, Columbus, OH, USA.
Karen NuytemansJohn P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL, USA.
Douglas W ScharreDepartment of Neurology, The Ohio State University Wexner Medical Center, Columbus, OH, USA.
Yi-Ju Li *Department of Biostatistics and Bioinformatics, Duke University School of Medicine, Durham, NC, USA.
Eden R Martin *John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL, USA.
The Ohio State University · USUniversity of Miami · USDuke University · USThe Ohio State University Wexner Medical Center · US

Funding

National Centralized Repository for Alzheimer's Disease and Related Dementias (NCRAD)U24AG021886 · NIA · INDIANA UNIV-PURDUE UNIV AT INDIANAPOLIS · PI TATIANA M. FOROUD · 2002 to 2026
$119.8M
Alzheimer's Disease Genetics ConsortiumU01AG032984 · NIA · UNIVERSITY OF PENNSYLVANIA · PI SCHELLENBERG, GERARD DAVID · 2009 to 2024
$60.4M
Genetic Basis of Age-at-Onset of Alzheimer DiseaseRF1AG060472 · NIA · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI GAO, XIAOYI RAYMOND, LI, YI-JU · 2018 to 2018
$3.6M
Medical Research Council MC_PC_17228NIA NIH HHS RF1 AG060472NIA NIH HHS U01 AG032984NIA NIH HHS U24 AG021886
6 · The paper itself

Abstract

Alzheimer's disease (AD) is the most common late-onset neurodegenerative disorder. Identifying individuals at increased risk of developing AD is important for early intervention. Using data from the Alzheimer Disease Genetics Consortium, we constructed polygenic risk scores (PRSs) for AD and age-at-onset (AAO) of AD for the UK Biobank participants. We then built machine learning (ML) models for predicting development of AD, and explored feature importance among PRSs, conventional risk factors, and ICD-10 codes from electronic health records, a total of > 11,000 features using the UK Biobank dataset. We used eXtreme Gradient Boosting (XGBoost) and SHapley Additive exPlanations (SHAP), which provided superior ML performance as well as aided ML model explanation. For participants age 40 and older, the area under the curve for AD was 0.88. For subjects of age 65 and older (late-onset AD), PRSs were the most important predictors. This is the first observation that PRSs constructed from the AD risk and AAO play more important roles than age in predicting AD. The ML model also identified important predictors from EHR, including urinary tract infection, syncope and collapse, chest pain, disorientation and hypercholesterolemia, for developing AD. Our ML model improved the accuracy of AD risk prediction by efficiently exploring numerous predictors and identified novel feature patterns.

Indexed as

Alzheimer DiseaseAdultAgedElectronic Health RecordsHumansMachine LearningRisk Factors

Identifiers

PMID36624143
PMCPMC9829871
OpenAlexW4313830798

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.