Genome-wide scan for five brain oscillatory phenotypes identifies a new qtl associated with theta eeg band

Detalhes bibliográficos
Autor(a) principal: Rebelo, MÂ
Data de Publicação: 2020
Outros Autores: Gómez, C, Gomes, I, Poza, J, Martins, S, Maturana-Candelas, A, Ruiz-Gómez, SJ, Durães, L, Sousa, P, Figueruelo, M, Rodríguez, M, Pita, C, Arenas, M, Alvarez, L, Hornero, R, Pinto, N, Lopes, AM
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: https://hdl.handle.net/10216/145237
Resumo: Brain waves, measured by electroencephalography (EEG), are a powerful tool in the investigation of neurophysiological traits and a noninvasive and cost-effective alternative in the diagnostic of some neurological diseases. In order to identify novel Quantitative Trait Loci (QTLs) for brain wave relative power (RP), we collected resting state EEG data in five frequency bands (d, ¿, a, ß1, and ß2) and genome-wide data in a cohort of 105 patients with late onset Alzheimer’s disease (LOAD), 41 individuals with mild cognitive impairment and 45 controls from Iberia, correcting for disease status. One novel association was found with an interesting candidate for a role in brain wave biology, CLEC16A (C-type lectin domain family 16), with a variant at this locus passing the adjusted genome-wide significance threshold after Bonferroni correction. This finding reinforces the importance of immune regulation in brain function. Additionally, at a significance cutoff value of 5 × 10-6, 18 independent association signals were detected. These signals comprise brain expression Quantitative Loci (eQTLs) in caudate basal ganglia, spinal cord, anterior cingulate cortex and hypothalamus, as well as chromatin interactions in adult and fetal cortex, neural progenitor cells and hippocampus. Moreover, in the set of genes showing signals of association with brain wave RP in our dataset, there is an overrepresentation of loci previously associated with neurological traits and pathologies, evidencing the pleiotropy of the genetic variation modulating brain function.
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spelling Genome-wide scan for five brain oscillatory phenotypes identifies a new qtl associated with theta eeg bandAlzheimer’s diseaseBrain electrophysiologyBrain QTLElectroencephalography rhythmsEndophenotypeFrequency spectrum relative powerGenome-wide association studyNeurological disordersBrain waves, measured by electroencephalography (EEG), are a powerful tool in the investigation of neurophysiological traits and a noninvasive and cost-effective alternative in the diagnostic of some neurological diseases. In order to identify novel Quantitative Trait Loci (QTLs) for brain wave relative power (RP), we collected resting state EEG data in five frequency bands (d, ¿, a, ß1, and ß2) and genome-wide data in a cohort of 105 patients with late onset Alzheimer’s disease (LOAD), 41 individuals with mild cognitive impairment and 45 controls from Iberia, correcting for disease status. One novel association was found with an interesting candidate for a role in brain wave biology, CLEC16A (C-type lectin domain family 16), with a variant at this locus passing the adjusted genome-wide significance threshold after Bonferroni correction. This finding reinforces the importance of immune regulation in brain function. Additionally, at a significance cutoff value of 5 × 10-6, 18 independent association signals were detected. These signals comprise brain expression Quantitative Loci (eQTLs) in caudate basal ganglia, spinal cord, anterior cingulate cortex and hypothalamus, as well as chromatin interactions in adult and fetal cortex, neural progenitor cells and hippocampus. Moreover, in the set of genes showing signals of association with brain wave RP in our dataset, there is an overrepresentation of loci previously associated with neurological traits and pathologies, evidencing the pleiotropy of the genetic variation modulating brain function.MDPI20202020-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttps://hdl.handle.net/10216/145237eng2076-342510.3390/brainsci10110870Rebelo, MÂGómez, CGomes, IPoza, JMartins, SMaturana-Candelas, ARuiz-Gómez, SJDurães, LSousa, PFigueruelo, MRodríguez, MPita, CArenas, MAlvarez, LHornero, RPinto, NLopes, AMinfo:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-11-29T15:50:07Zoai:repositorio-aberto.up.pt:10216/145237Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T00:33:18.897343Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Genome-wide scan for five brain oscillatory phenotypes identifies a new qtl associated with theta eeg band
title Genome-wide scan for five brain oscillatory phenotypes identifies a new qtl associated with theta eeg band
spellingShingle Genome-wide scan for five brain oscillatory phenotypes identifies a new qtl associated with theta eeg band
Rebelo, MÂ
Alzheimer’s disease
Brain electrophysiology
Brain QTL
Electroencephalography rhythms
Endophenotype
Frequency spectrum relative power
Genome-wide association study
Neurological disorders
title_short Genome-wide scan for five brain oscillatory phenotypes identifies a new qtl associated with theta eeg band
title_full Genome-wide scan for five brain oscillatory phenotypes identifies a new qtl associated with theta eeg band
title_fullStr Genome-wide scan for five brain oscillatory phenotypes identifies a new qtl associated with theta eeg band
title_full_unstemmed Genome-wide scan for five brain oscillatory phenotypes identifies a new qtl associated with theta eeg band
title_sort Genome-wide scan for five brain oscillatory phenotypes identifies a new qtl associated with theta eeg band
author Rebelo, MÂ
author_facet Rebelo, MÂ
Gómez, C
Gomes, I
Poza, J
Martins, S
Maturana-Candelas, A
Ruiz-Gómez, SJ
Durães, L
Sousa, P
Figueruelo, M
Rodríguez, M
Pita, C
Arenas, M
Alvarez, L
Hornero, R
Pinto, N
Lopes, AM
author_role author
author2 Gómez, C
Gomes, I
Poza, J
Martins, S
Maturana-Candelas, A
Ruiz-Gómez, SJ
Durães, L
Sousa, P
Figueruelo, M
Rodríguez, M
Pita, C
Arenas, M
Alvarez, L
Hornero, R
Pinto, N
Lopes, AM
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Rebelo, MÂ
Gómez, C
Gomes, I
Poza, J
Martins, S
Maturana-Candelas, A
Ruiz-Gómez, SJ
Durães, L
Sousa, P
Figueruelo, M
Rodríguez, M
Pita, C
Arenas, M
Alvarez, L
Hornero, R
Pinto, N
Lopes, AM
dc.subject.por.fl_str_mv Alzheimer’s disease
Brain electrophysiology
Brain QTL
Electroencephalography rhythms
Endophenotype
Frequency spectrum relative power
Genome-wide association study
Neurological disorders
topic Alzheimer’s disease
Brain electrophysiology
Brain QTL
Electroencephalography rhythms
Endophenotype
Frequency spectrum relative power
Genome-wide association study
Neurological disorders
description Brain waves, measured by electroencephalography (EEG), are a powerful tool in the investigation of neurophysiological traits and a noninvasive and cost-effective alternative in the diagnostic of some neurological diseases. In order to identify novel Quantitative Trait Loci (QTLs) for brain wave relative power (RP), we collected resting state EEG data in five frequency bands (d, ¿, a, ß1, and ß2) and genome-wide data in a cohort of 105 patients with late onset Alzheimer’s disease (LOAD), 41 individuals with mild cognitive impairment and 45 controls from Iberia, correcting for disease status. One novel association was found with an interesting candidate for a role in brain wave biology, CLEC16A (C-type lectin domain family 16), with a variant at this locus passing the adjusted genome-wide significance threshold after Bonferroni correction. This finding reinforces the importance of immune regulation in brain function. Additionally, at a significance cutoff value of 5 × 10-6, 18 independent association signals were detected. These signals comprise brain expression Quantitative Loci (eQTLs) in caudate basal ganglia, spinal cord, anterior cingulate cortex and hypothalamus, as well as chromatin interactions in adult and fetal cortex, neural progenitor cells and hippocampus. Moreover, in the set of genes showing signals of association with brain wave RP in our dataset, there is an overrepresentation of loci previously associated with neurological traits and pathologies, evidencing the pleiotropy of the genetic variation modulating brain function.
publishDate 2020
dc.date.none.fl_str_mv 2020
2020-01-01T00:00:00Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv https://hdl.handle.net/10216/145237
url https://hdl.handle.net/10216/145237
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 2076-3425
10.3390/brainsci10110870
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv MDPI
publisher.none.fl_str_mv MDPI
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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