Evidence map›Paper›PMID 37192343›Full record

ArticleBrain : a journal of neurology2023

Genetic risk factor clustering within and across neurodegenerative diseases.

Mathew J Koretsky, Chelsea Alvarado, Mary B Makarious, Dan Vitale, Kristin Levine, Sara Bandres-Ciga, Anant Dadu, Sonja W Scholz, Lana Sargent, Faraz Faghri and 5 more

Open access · hybridAbstract read
In one paragraph

Article in Brain : a journal of neurology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
18citing papers in PubMed, 1 pooled it
5.6field-weighted citation impact, top 3% 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

18 citing papers in PubMed, 1 synthesis or guideline pooled it, 28 citations in OpenAlex.

  1. Pooled it
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  4. Genetic analysis of neurodegenerative diseases.The Journal of clinical investigation · 2026
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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

15 authors at 2 institutions in 2 countries.

Mathew J KoretskyCenter for Alzheimer's Disease and Related Dementias, National Institutes of Health, Bethesda, MD 20892, USA.ORCID 0000-0003-4341-3991
Chelsea AlvaradoCenter for Alzheimer's Disease and Related Dementias, National Institutes of Health, Bethesda, MD 20892, USA.
Mary B MakariousLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA.ORCID 0000-0001-7049-6281
Dan VitaleCenter for Alzheimer's Disease and Related Dementias, National Institutes of Health, Bethesda, MD 20892, USA.ORCID 0000-0002-0637-3671
Kristin LevineCenter for Alzheimer's Disease and Related Dementias, National Institutes of Health, Bethesda, MD 20892, USA.
Sara Bandres-CigaCenter for Alzheimer's Disease and Related Dementias, National Institutes of Health, Bethesda, MD 20892, USA.
Anant DaduCenter for Alzheimer's Disease and Related Dementias, National Institutes of Health, Bethesda, MD 20892, USA.
Sonja W ScholzNeurodegenerative Diseases Research Unit, National Institute of Neurological Disorders and Stroke, Bethesda, MD 20892, USA.ORCID 0000-0002-6623-0429
Lana SargentCenter for Alzheimer's Disease and Related Dementias, National Institutes of Health, Bethesda, MD 20892, USA.ORCID 0000-0001-5555-9985
Faraz FaghriCenter for Alzheimer's Disease and Related Dementias, National Institutes of Health, Bethesda, MD 20892, USA.ORCID 0000-0001-5744-8728
Hirotaka IwakiCenter for Alzheimer's Disease and Related Dementias, National Institutes of Health, Bethesda, MD 20892, USA.
Cornelis BlauwendraatCenter for Alzheimer's Disease and Related Dementias, National Institutes of Health, Bethesda, MD 20892, USA.ORCID 0000-0001-9358-8111
Andrew SingletonCenter for Alzheimer's Disease and Related Dementias, National Institutes of Health, Bethesda, MD 20892, USA.
Mike NallsCenter for Alzheimer's Disease and Related Dementias, National Institutes of Health, Bethesda, MD 20892, USA.
Hampton LeonardCenter for Alzheimer's Disease and Related Dementias, National Institutes of Health, Bethesda, MD 20892, USA.
National Institutes of Health · USJohns Hopkins University · US

Funding

Vascular Structure and Function in Cognitive AgingP01AG003949 · NIA · YESHIVA UNIVERSITY · PI Richard B. LIPTON · 1985 to 2026
$73.9M
SUPPLEMENT TO ALZHEIMERS DISEASE PATIENT REGISTRYU01AG006786 · NIA · MAYO CLINIC ROCHESTER · PI GRAFF-RADFORD, JONATHAN, JACK, CLIFFORD R. · 1986 to 2023
$49.6M
SUPPLEMENT TO RUSH ALZHEIMERS DISEASE CENTER COREP30AG010161 · NIA · RUSH UNIVERSITY MEDICAL CENTER · PI BENNETT, DAVID ALAN · 1991 to 2020
$49.1M
EPIDEMIOLOGY OF NEURAL RESERVE AND NEUROBIOLOGY IN AGINGR01AG017917 · NIA · RUSH UNIVERSITY MEDICAL CENTER · PI BENNETT, DAVID ALAN · 2001 to 2023
$43.3M
THE PGRN/TDP-43 AXIS IN ALZHEIMER?S DISEASE AND NEURODEGENERATIONP50AG016574 · NIA · MAYO CLINIC ROCHESTER · PI BU, GUOJUN · 1999 to 2018
$36.9M
Research Education ComponentP30AG019610 · NIA · SUN HEALTH RESEARCH INSTITUTE · PI GONZALEZ HERNANDEZ, GRACIELA · 2001 to 2020
$32.5M
Integrative Network Biology Approaches to Identify, Characterize and Validate Molecular Subtypes in Alzheimer's DiseaseU01AG046170 · NIA · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI WANG, MINGHUI, ZHANG, BIN · 2013 to 2022
$26.0M
Rush Alzheimer's Disease Research CenterP30AG072975 · NIA · RUSH UNIVERSITY MEDICAL CENTER · PI Lisa L Barnes, Julie A. Schneider · 2021 to 2026
$24.7M
Integrating the exposome and methylome to inform brain molecular changes in ADRD across established diverse cohorts.U01AG046139 · NIA · UNIVERSITY OF FLORIDA · PI ERTEKIN-TANER, NILUFER, PETERS, METTE · 2013 to 2022
$24.6M
Tox-AD: a new multi-institute tri-consortium data resource in the AD Knowledge PortalU24AG061340 · NIA · SAGE BIONETWORKS · PI Laura Michelle Heath, Susheel Varma · 2018 to 2026
$24.6M
RISK FACTORS, PATHOLOGY, AND CLINICAL EXPRESSIONS OF ADR01AG015819 · NIA · RUSH UNIVERSITY MEDICAL CENTER · PI BENNETT, DAVID ALAN · 1998 to 2024
$21.4M
Genetic characterization of atypical parkinsonismZIANS003154 · NINDS · NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE · PI SCHOLZ, SONJA · 2016 to 2025
$15.4M
Intramural NIH HHS ZIA NS003154NIA NIH HHS P01 AG003949NIA NIH HHS P01 AG017216NIA NIH HHS P30 AG010161NIA NIH HHS P30 AG019610NIA NIH HHS P30 AG072975NIA NIH HHS P50 AG016574NIA NIH HHS P50 AG025711NIA NIH HHS R01 AG015819NIA NIH HHS R01 AG017917NIA NIH HHS R01 AG018023NIA NIH HHS R01 AG032990NIA NIH HHS R01 AG036836NIA NIH HHS RF1 AG057440NIA NIH HHS U01 AG006786NIA NIH HHS U01 AG046139NIA NIH HHS U01 AG046152NIA NIH HHS U01 AG046170NIA NIH HHS U01 AG061356NIA NIH HHS U24 AG061340NINDS NIH HHS R01 NS080820NINDS NIH HHS U24 NS072026
6 · The paper itself

Abstract

Overlapping symptoms and co-pathologies are common in closely related neurodegenerative diseases (NDDs). Investigating genetic risk variants across these NDDs can give further insight into disease manifestations. In this study we have leveraged genome-wide single nucleotide polymorphisms and genome-wide association study summary statistics to cluster patients based on their genetic status across identified risk variants for five NDDs (Alzheimer's disease, Parkinson's disease, amyotrophic lateral sclerosis, Lewy body dementia and frontotemporal dementia). The multi-disease and disease-specific clustering results presented here provide evidence that NDDs have more overlapping genetic aetiology than previously expected and how neurodegeneration should be viewed as a spectrum of symptomology. These clustering analyses also show potential subsets of patients with these diseases that are significantly depleted for any known common genetic risk factors suggesting environmental or other factors at work. Establishing that NDDs with overlapping pathologies share genetic risk loci, future research into how these variants might have different effects on downstream protein expression, pathology and NDD manifestation in general is important for refining and treating NDDs.

Indexed as

Alzheimer DiseaseLewy Body DiseaseNeurodegenerative DiseasesParkinson DiseaseGenome-Wide Association StudyHumansRisk Factorsdementiagenome-wide association studymachine learningsingle-nucleotide polymorphismunsupervised

Identifiers

PMID37192343
PMCPMC10629980
OpenAlexW4376637282

What OpenQuestion holds

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LicenceCC BY-NC
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.