Evidence map›Paper›PMID 33522999›Full record

ArticleJournal of Alzheimer's disease : JAD2021

Risk Variants in Three Alzheimer's Disease Genes Show Association with EEG Endophenotypes.

Ana Macedo, Carlos Gómez, Miguel Ângelo Rebelo, Jesús Poza, Iva Gomes, Sandra Martins, Aarón Maturana-Candelas, Víctor Gutiérrez-de Pablo, Luis Durães, Patrícia Sousa and 8 more

Abstract read
In one paragraph

Article in Journal of Alzheimer's disease : JAD, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed, 2 pooled it
–field-weighted citation impact
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

9 citing papers in PubMed, 2 syntheses or guidelines pooled it.

  1. Pooled it
  2. Pooled it
  3. Review
  4. Review
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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

18 authors.

Ana MacedoIPATIMUP - Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Porto, Portugal.
Carlos GómezGrupo de Ingeniería Biomédica, Universidad de Valladolid, Valladolid, Spain.
Miguel Ângelo RebeloIPATIMUP - Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Porto, Portugal.
Jesús PozaGrupo de Ingeniería Biomédica, Universidad de Valladolid, Valladolid, Spain.
Iva GomesIPATIMUP - Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Porto, Portugal.
Sandra MartinsIPATIMUP - Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Porto, Portugal.
Aarón Maturana-CandelasGrupo de Ingeniería Biomédica, Universidad de Valladolid, Valladolid, Spain.
Víctor Gutiérrez-de PabloGrupo de Ingeniería Biomédica, Universidad de Valladolid, Valladolid, Spain.
Luis DurãesAssociação Portuguesa de Familiares e Amigos de Doentes de Alzheimer, Lavra, Portugal.
Patrícia SousaAssociação Portuguesa de Familiares e Amigos de Doentes de Alzheimer, Lavra, Portugal.
Manuel FiguerueloAsociación de Familiares y Amigos de Enfermos de Alzheimer y otras demencias de Zamora, Zamora, Spain.
María RodríguezAsociación de Familiares y Amigos de Enfermos de Alzheimer y otras demencias de Zamora, Zamora, Spain.
Carmen PitaAsociación de Familiares y Amigos de Enfermos de Alzheimer y otras demencias de Zamora, Zamora, Spain.
Miguel ArenasIPATIMUP - Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Porto, Portugal.
Luis ÁlvarezIPATIMUP - Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Porto, Portugal.
Roberto HorneroGrupo de Ingeniería Biomédica, Universidad de Valladolid, Valladolid, Spain.
Alexandra M LopesIPATIMUP - Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Porto, Portugal.
Nádia PintoIPATIMUP - Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Porto, Portugal.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundDementia due to Alzheimer's disease (AD) is a complex neurodegenerative disorder, which much of heritability remains unexplained. At the clinical level, one of the most common physiological alterations is the slowing of oscillatory brain activity, measurable by electroencephalography (EEG). Relative power (RP) at the conventional frequency bands (i.e., delta, theta, alpha, beta-1, and beta-2) can be considered as AD endophenotypes.

objectiveThe aim of this work is to analyze the association between sixteen genes previously related with AD: APOE, PICALM, CLU, BCHE, CETP, CR1, SLC6A3, GRIN2 β, SORL1, TOMM40, GSK3 β, UNC5C, OPRD1, NAV2, HOMER2, and IL1RAP, and the slowing of the brain activity, assessed by means of RP at the aforementioned frequency bands.

methodsAn Iberian cohort of 45 elderly controls, 45 individuals with mild cognitive impairment, and 109 AD patients in the three stages of the disease was considered. Genomic information and brain activity of each subject were analyzed.

resultsThe slowing of brain activity was observed in carriers of risk alleles in IL1RAP (rs10212109, rs9823517, rs4687150), UNC5C (rs17024131), and NAV2 (rs1425227, rs862785) genes, regardless of the disease status and situation towards the strongest risk factors: age, sex, and APOE ɛ4 presence.

conclusionEndophenotypes reduce the complexity of the general phenotype and genetic variants with a major effect on those specific traits may be then identified. The found associations in this work are novel and may contribute to the comprehension of AD pathogenesis, each with a different biological role, and influencing multiple factors involved in brain physiology.

Indexed as

ElectroencephalographyAgedAged, 80 and overAllelesAlzheimer DiseaseApolipoprotein E4BrainCognitive DysfunctionCohort StudiesDNA HelicasesFemaleGenotypeHumansInterleukin-1 Receptor Accessory ProteinMaleNetrin ReceptorsApolipoprotein E4DNA HelicasesIL1RAP protein, humanInterleukin-1 Receptor Accessory ProteinNAV2 protein, humanNetrin ReceptorsUNC5C protein, humanAlzheimer’s diseaseEEGelectroencephalographyendophenotypesgenetics

Identifiers

PMID33522999
PMCPMC8075394

What Socratic holds

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LicenceCC BY-NC
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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 Socratic graph.