Evidence map›Paper›PMID 33134515›Full record

ArticleNeurology. Genetics2020

Association of blood-based transcriptional risk scores with biomarkers for Alzheimer disease.

Young Ho Park, Angela Hodges, Andrew Simmons, Simon Lovestone, Michael W Weiner, SangYun Kim, Andrew J Saykin, Kwangsik Nho, AddNeuroMed consortium and the Alzheimer's Disease Neuroimaging Initiative

Open access · goldAbstract read
In one paragraph

Article in Neurology. Genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed, 2 pooled it
1.9field-weighted citation impact, top 13% 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

13 citing papers in PubMed, 2 syntheses or guidelines pooled it, 26 citations in OpenAlex.

  1. 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 · 2025
    Pooled it
  2. Pooled it
  3. Transcriptional risk score for chronic kidney disease: relation to Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026
    Article
  4. Integrating polygenic and transcriptional risk scores for detecting Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026
    Article
  5. Polygenic risk score predicts pathologically confirmed cerebral amyloid angiopathy.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025
    Article
  6. Article
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  8. Transcriptional risk scores in Alzheimer's disease: From pathology to cognition.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024
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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

9 authors at 1 institution in 4 countries.

Young Ho ParkDepartment of Radiology and Imaging Sciences (Y.H.P., A.J.S., K.N.), and the Indiana Alzheimer Disease Center, Indiana University School of Medicine, Indianapolis; Department of Neurology (Y.H.P.), Seoul National University Bundang Hospital and Seoul National University College of Medicine, Seongnam, Republic of Korea; Institute of Psychiatry, Psychology & Neuroscience (A.H., A.S.), King's College London, United Kingdom; Department of Psychiatry (S.L.), University of Oxford, United Kingdom; Departments of Radiology, Medicine, and Psychiatry (M.W.W.), University of California-San Francisco; Department of Veterans Affairs Medical Center (M.W.W.), San Francisco, CA; Department of Medical and Molecular Genetics (A.J.S.), Indiana University School of Medicine, Indianapolis; and Center for Computational Biology and Bioinformatics (K.N.), Indiana University School of Medicine, Indianapolis.ORCID 0000-0002-2756-1786
Angela HodgesDepartment of Radiology and Imaging Sciences (Y.H.P., A.J.S., K.N.), and the Indiana Alzheimer Disease Center, Indiana University School of Medicine, Indianapolis; Department of Neurology (Y.H.P.), Seoul National University Bundang Hospital and Seoul National University College of Medicine, Seongnam, Republic of Korea; Institute of Psychiatry, Psychology & Neuroscience (A.H., A.S.), King's College London, United Kingdom; Department of Psychiatry (S.L.), University of Oxford, United Kingdom; Departments of Radiology, Medicine, and Psychiatry (M.W.W.), University of California-San Francisco; Department of Veterans Affairs Medical Center (M.W.W.), San Francisco, CA; Department of Medical and Molecular Genetics (A.J.S.), Indiana University School of Medicine, Indianapolis; and Center for Computational Biology and Bioinformatics (K.N.), Indiana University School of Medicine, Indianapolis.
Andrew SimmonsDepartment of Radiology and Imaging Sciences (Y.H.P., A.J.S., K.N.), and the Indiana Alzheimer Disease Center, Indiana University School of Medicine, Indianapolis; Department of Neurology (Y.H.P.), Seoul National University Bundang Hospital and Seoul National University College of Medicine, Seongnam, Republic of Korea; Institute of Psychiatry, Psychology & Neuroscience (A.H., A.S.), King's College London, United Kingdom; Department of Psychiatry (S.L.), University of Oxford, United Kingdom; Departments of Radiology, Medicine, and Psychiatry (M.W.W.), University of California-San Francisco; Department of Veterans Affairs Medical Center (M.W.W.), San Francisco, CA; Department of Medical and Molecular Genetics (A.J.S.), Indiana University School of Medicine, Indianapolis; and Center for Computational Biology and Bioinformatics (K.N.), Indiana University School of Medicine, Indianapolis.
Simon LovestoneDepartment of Radiology and Imaging Sciences (Y.H.P., A.J.S., K.N.), and the Indiana Alzheimer Disease Center, Indiana University School of Medicine, Indianapolis; Department of Neurology (Y.H.P.), Seoul National University Bundang Hospital and Seoul National University College of Medicine, Seongnam, Republic of Korea; Institute of Psychiatry, Psychology & Neuroscience (A.H., A.S.), King's College London, United Kingdom; Department of Psychiatry (S.L.), University of Oxford, United Kingdom; Departments of Radiology, Medicine, and Psychiatry (M.W.W.), University of California-San Francisco; Department of Veterans Affairs Medical Center (M.W.W.), San Francisco, CA; Department of Medical and Molecular Genetics (A.J.S.), Indiana University School of Medicine, Indianapolis; and Center for Computational Biology and Bioinformatics (K.N.), Indiana University School of Medicine, Indianapolis.
Michael W WeinerDepartment of Radiology and Imaging Sciences (Y.H.P., A.J.S., K.N.), and the Indiana Alzheimer Disease Center, Indiana University School of Medicine, Indianapolis; Department of Neurology (Y.H.P.), Seoul National University Bundang Hospital and Seoul National University College of Medicine, Seongnam, Republic of Korea; Institute of Psychiatry, Psychology & Neuroscience (A.H., A.S.), King's College London, United Kingdom; Department of Psychiatry (S.L.), University of Oxford, United Kingdom; Departments of Radiology, Medicine, and Psychiatry (M.W.W.), University of California-San Francisco; Department of Veterans Affairs Medical Center (M.W.W.), San Francisco, CA; Department of Medical and Molecular Genetics (A.J.S.), Indiana University School of Medicine, Indianapolis; and Center for Computational Biology and Bioinformatics (K.N.), Indiana University School of Medicine, Indianapolis.
SangYun KimDepartment of Radiology and Imaging Sciences (Y.H.P., A.J.S., K.N.), and the Indiana Alzheimer Disease Center, Indiana University School of Medicine, Indianapolis; Department of Neurology (Y.H.P.), Seoul National University Bundang Hospital and Seoul National University College of Medicine, Seongnam, Republic of Korea; Institute of Psychiatry, Psychology & Neuroscience (A.H., A.S.), King's College London, United Kingdom; Department of Psychiatry (S.L.), University of Oxford, United Kingdom; Departments of Radiology, Medicine, and Psychiatry (M.W.W.), University of California-San Francisco; Department of Veterans Affairs Medical Center (M.W.W.), San Francisco, CA; Department of Medical and Molecular Genetics (A.J.S.), Indiana University School of Medicine, Indianapolis; and Center for Computational Biology and Bioinformatics (K.N.), Indiana University School of Medicine, Indianapolis.
Andrew J SaykinDepartment of Radiology and Imaging Sciences (Y.H.P., A.J.S., K.N.), and the Indiana Alzheimer Disease Center, Indiana University School of Medicine, Indianapolis; Department of Neurology (Y.H.P.), Seoul National University Bundang Hospital and Seoul National University College of Medicine, Seongnam, Republic of Korea; Institute of Psychiatry, Psychology & Neuroscience (A.H., A.S.), King's College London, United Kingdom; Department of Psychiatry (S.L.), University of Oxford, United Kingdom; Departments of Radiology, Medicine, and Psychiatry (M.W.W.), University of California-San Francisco; Department of Veterans Affairs Medical Center (M.W.W.), San Francisco, CA; Department of Medical and Molecular Genetics (A.J.S.), Indiana University School of Medicine, Indianapolis; and Center for Computational Biology and Bioinformatics (K.N.), Indiana University School of Medicine, Indianapolis.ORCID 0000-0002-1376-8532
Kwangsik NhoDepartment of Radiology and Imaging Sciences (Y.H.P., A.J.S., K.N.), and the Indiana Alzheimer Disease Center, Indiana University School of Medicine, Indianapolis; Department of Neurology (Y.H.P.), Seoul National University Bundang Hospital and Seoul National University College of Medicine, Seongnam, Republic of Korea; Institute of Psychiatry, Psychology & Neuroscience (A.H., A.S.), King's College London, United Kingdom; Department of Psychiatry (S.L.), University of Oxford, United Kingdom; Departments of Radiology, Medicine, and Psychiatry (M.W.W.), University of California-San Francisco; Department of Veterans Affairs Medical Center (M.W.W.), San Francisco, CA; Department of Medical and Molecular Genetics (A.J.S.), Indiana University School of Medicine, Indianapolis; and Center for Computational Biology and Bioinformatics (K.N.), Indiana University School of Medicine, Indianapolis.
AddNeuroMed consortium and the Alzheimer's Disease Neuroimaging Initiative
San Francisco VA Medical Center · US

Funding

Integrating Neuroimaging, Multi-omics, and Clinical Data in Complex DiseaseR01LM012535 · NLM · INDIANA UNIVERSITY INDIANAPOLIS · PI NHO, KWANGSIK TIMOTHY · 2017 to 2021
$1.7M
Neurogenesis in Adult Brain: Gene Networks and Alzheimer’s DiseaseR03AG054936 · NIA · INDIANA UNIVERSITY INDIANAPOLIS · PI NHO, KWANGSIK TIMOTHY · 2017 to 2018
$145k
NIA NIH HHS R03 AG054936NLM NIH HHS R01 LM012535
6 · The paper itself

Abstract

objectiveTo determine whether transcriptional risk scores (TRSs), a summation of polarized expression levels of functional genes, reflect the risk of Alzheimer disease (AD).

methodsBlood transcriptome data were from Caucasian participants, which included AD, mild cognitive impairment, and cognitively normal controls (CN) in the Alzheimer's Disease Neuroimaging Initiative (ADNI, n = 661) and AddNeuroMed (n = 674) cohorts. To calculate TRSs, we selected functional genes that were expressed under the control of the AD risk loci and were identified as being responsible for AD by using Bayesian colocalization and mendelian randomization methods. Regression was used to investigate the association of the TRS with diagnosis (AD vs CN) and MRI biomarkers (entorhinal thickness and hippocampal volume). Regression was also used to evaluate whether expression of each functional gene was associated with AD diagnosis.

resultsThe TRS was significantly associated with AD diagnosis, hippocampal volume, and entorhinal cortical thickness in the ADNI. The association of the TRS with AD diagnosis and entorhinal cortical thickness was also replicated in AddNeuroMed. Among functional genes identified to calculate the TRS,

conclusionsThe blood-based TRS is significantly associated with AD diagnosis and neuroimaging biomarkers. In blood, CLASSIFICATION OF EVIDENCE: The study is rated Class III because of the case control design and the risk of spectrum bias.

Identifiers

PMID33134515
PMCPMC7577551
OpenAlexW3091447885

What OpenQuestion holds

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LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

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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.