Evidence map›Paper›PMID 34935119›Full record

ReviewNeurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics2022

Genomics and Functional Genomics of Alzheimer's Disease.

M Ilyas Kamboh

Open access · hybridAbstract readReview
In one paragraph

Review in Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers, 5 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
54citing papers in PubMed, 5 pooled it
5.9field-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

54 citing papers in PubMed, 5 syntheses or guidelines pooled it, 72 citations in OpenAlex.

  1. International journal of molecular sciences · 2025
    Pooled it
  2. Pooled it
  3. Sex-stratified genome-wide meta-analysis identifies novel loci for cognitive decline in older adults.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025
    Pooled it
  4. Pooled it
  5. Pooled it
  6. Article
  7. Article
  8. Review
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  10. Article
  11. Review
  12. Article
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  15. Article
  16. Review
  17. Article
  18. Genome-wide association of tau neuroimaging and plasma biomarkers in adults with Down syndrome.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025
    Article
  19. 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

1 author at 1 institution in 1 country.

M Ilyas KambohDepartment of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA. kamboh@pitt.edu.ORCID 0000-0002-3453-1438
University of Pittsburgh · US

Funding

Research Education ComponentP30AG066468 · NIA · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI C. Elizabeth Shaaban · 2020 to 2026
$29.4M
Genetic Architecture of Alzheimer’s disease ProteinopathiesR01AG064877 · NIA · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI CRUCHAGA, CARLOS, KAMBOH, M. ILYAS · 2021 to 2024
$8.4M
Search for the Alzheimers GenesR01AG030653 · NIA · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI KAMBOH, M. ILYAS · 2009 to 2019
$7.7M
Deep Resequencing of Candidate Gene Regions in Late-onset Alzheimer's DiseaseR01AG041718 · NIA · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI KAMBOH, M. ILYAS · 2012 to 2016
$3.0M
Genetic Architecture of Alzheimer's disease ProteinopathiesR56AG064877 · NIA · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI CRUCHAGA, CARLOS, KAMBOH, M. ILYAS · 2019 to 2019
$2.6M
NIA NIH HHS P30 AG066468NIA NIH HHS R01 AG030653NIA NIH HHS R01 AG041718NIA NIH HHS R01 AG064877NIA NIH HHS R56 AG064877
6 · The paper itself

Abstract

Alzheimer's disease (AD) is a complex and multifactorial neurodegenerative disease. Due to its long clinical course and lack of an effective treatment, AD has become a major public health problem in the USA and worldwide. Due to variation in age-at-onset, AD is classified into early-onset (< 60 years) and late-onset (≥ 60 years) forms with early-onset accounting for only 5-10% of all cases. With the exception of a small number of early-onset cases that are afflicted because of high penetrant single gene mutations in APP, PSEN1, and PSEN2 genes, AD is genetically heterogeneous, especially the late-onset form having a polygenic or oligogenic risk inheritance. Since the identification of APOE as the most significant risk factor for late-onset AD in 1993, the path to the discovery of additional AD risk genes had been arduous until 2009 when the use of large genome-wide association studies opened up the discovery gateways that led the identification of ~ 95 additional risk loci from 2009 to early 2022. This article reviews the history of AD genetics followed by the potential molecular pathways and recent application of functional genomics methods to identify the causal AD gene(s) among the many genes that reside within a single locus. The ultimate goal of integrating genomics and functional genomics is to discover novel pathways underlying the AD pathobiology in order to identify drug targets for the therapeutic treatment of this heterogeneous disorder.

Indexed as

Alzheimer DiseaseNeurodegenerative DiseasesGenetic Predisposition to DiseaseGenome-Wide Association StudyGenomicsHumansAlzheimer’s diseaseFunctional genomicsGenome-wide association studiesGenomicsSNPs

Identifiers

PMID34935119
PMCPMC9130391
OpenAlexW4200218594

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.