A correlation map of genome-wide DNA methylation patterns between paired human brain and buccal samples
Year: 2022
Type: article
Study design: Observational Study
Abstract: 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.
Source: Clinical Epigenetics
Institutions: University of Lübeck, Harvard University, Massachusetts General Hospital, Christian-Albrechts-Universität zu Kiel, Humboldt-Universität zu Berlin, Berlin-Brandenburger Centrum für Regenerative Therapien, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Freie Universität Berlin, Charité – Universitätsmedizin Berlin, University of Münster, Imperial College London, University of Oslo
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $3,190
Awards: G1997915024, Verbundprojekt: Berliner Altersstudie II - BASE II - , Teilvorhaben: Projektkoordination, Datenbank und Psychologie, GendAge - Geschlechts-sensitive Vorbeugung kardiovaskulärer und metabolischer Krankheiten bei älteren Erwachsenen in Deutschland - Teilprojekt 2 (GendAge-HU), Verbundprojekt: Berliner Altersstudie II - BASE II - , Teilvorhaben: Survey Methodik und Sozialwissenschaft, G3887689920, G448906261, Verbundprojekt: Berliner Altersstudie II - BASE II - , Teilvorhaben: Innere Medizin/Geriatrie, GendAge - Geschlechts-sensitive Vorbeugung kardiovaskulärer und metabolischer Krankheiten bei älteren Erwachsenen in Deutschland - Teilprojekt 1 und Verbundkoordination (GendAge-Charité), Die Rolle von microRNARNA regulatorischen Netzwerken für von Alzheimer betroffene neuronale Vernetzungen, G72229501, Verbundprojekt: Berliner Altersstudie II - BASE II - , Teilvorhaben: Molekulargenetik, Die Berliner Altersstudie (BASE): Fortführung und Erweiterung (BASE II), Massachusetts Alzheimer's Disease Research Center (MADRC)
OpenAlex ID: W4308257606