A correlation map of genome-wide DNA methylation patterns between paired human brain and buccal samples.


Journal

Clinical epigenetics
ISSN: 1868-7083
Titre abrégé: Clin Epigenetics
Pays: Germany
ID NLM: 101516977

Informations de publication

Date de publication:
01 11 2022
Historique:
received: 09 12 2021
accepted: 17 10 2022
entrez: 2 11 2022
pubmed: 3 11 2022
medline: 4 11 2022
Statut: epublish

Résumé

Epigenome-wide association studies (EWAS) assessing the link between DNA methylation (DNAm) and phenotypes related to structural brain measures, cognitive function, and neurodegenerative diseases are becoming increasingly more popular. Due to the inaccessibility of brain tissue in humans, several studies use peripheral tissues such as blood, buccal swabs, and saliva as surrogates. To aid the functional interpretation of EWAS findings in such settings, there is a need to assess the correlation of DNAm variability across tissues in the same individuals. In this study, we performed a correlation analysis between DNAm data of a total of n = 120 matched post-mortem buccal and prefrontal cortex samples. We identified nearly 25,000 (3% of approximately 730,000) cytosine-phosphate-guanine (CpG) sites showing significant (false discovery rate q < 0.05) correlations between buccal and PFC samples. Correlated CpG sites showed a preponderance to being located in promoter regions and showed a significant enrichment of being determined by genetic factors, i.e. methylation quantitative trait loci (mQTL), based on buccal and dorsolateral prefrontal cortex mQTL databases. Our novel buccal-brain DNAm correlation map will provide a valuable resource for future EWAS using buccal samples for studying DNAm effects on phenotypes relating to the brain. All correlation results are made freely available to the public online.

Identifiants

pubmed: 36320053
doi: 10.1186/s13148-022-01357-w
pii: 10.1186/s13148-022-01357-w
pmc: PMC9628033
doi:

Substances chimiques

DNA 9007-49-2

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

139

Subventions

Organisme : NIA NIH HHS
ID : P30 AG062421
Pays : United States

Informations de copyright

© 2022. The Author(s).

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Auteurs

Yasmine Sommerer (Y)

Lübeck Interdisciplinary Platform for Genome Analytics (LIGA), University of Lübeck, Ratzeburger Allee 160, Haus V50, 1St Floor, Room 319, 23562, Lübeck, Germany.

Olena Ohlei (O)

Lübeck Interdisciplinary Platform for Genome Analytics (LIGA), University of Lübeck, Ratzeburger Allee 160, Haus V50, 1St Floor, Room 319, 23562, Lübeck, Germany.

Valerija Dobricic (V)

Lübeck Interdisciplinary Platform for Genome Analytics (LIGA), University of Lübeck, Ratzeburger Allee 160, Haus V50, 1St Floor, Room 319, 23562, Lübeck, Germany.

Derek H Oakley (DH)

Department of Pathology, Massachusetts General Hospital, Harvard Medical School, Charlestown, MA, USA.

Tanja Wesse (T)

Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel, Germany.

Sanaz Sedghpour Sabet (S)

Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel, Germany.

Ilja Demuth (I)

Charité - Universitätsmedizin Berlin, Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin, Germany.
Division of Lipid Metabolism, Department of Endocrinology and Metabolic Diseases, Berlin Institute of Health, Berlin, Germany.
BCRT - Berlin Institute of Health Center for Regenerative Therapies, Charité - Universitätsmedizin Berlin, Berlin, Germany.

Andre Franke (A)

Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel, Germany.

Bradley T Hyman (BT)

Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Charlestown, MA, USA.
Massachusetts Alzheimer's Disease Research Center, Charlestown, MA, USA.
Harvard Medical School, Boston, MA, USA.

Christina M Lill (CM)

Lübeck Interdisciplinary Platform for Genome Analytics (LIGA), University of Lübeck, Ratzeburger Allee 160, Haus V50, 1St Floor, Room 319, 23562, Lübeck, Germany.
Ageing Epidemiology Unit (AGE), School of Public Health, Imperial College London, London, UK.
Institute of Epidemiology and Social Medicine, University of Münster, Münster, Germany.

Lars Bertram (L)

Lübeck Interdisciplinary Platform for Genome Analytics (LIGA), University of Lübeck, Ratzeburger Allee 160, Haus V50, 1St Floor, Room 319, 23562, Lübeck, Germany. lars.bertram@uni-luebeck.de.
Department of Psychology, Center for Lifespan Changes in Brain and Cognition (LCBC), University of Oslo, Oslo, Norway. lars.bertram@uni-luebeck.de.

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