Genome-wide mapping of genetic determinants influencing DNA methylation and gene expression in human hippocampus

Herbert Schulz, Ann-Kathrin Ruppert, Stefan Herms, Christiane Wolf, Nazanin Mirza-Schreiber, Oliver Stegle, Darina Czamara, Andreas J. Forstner, Sugirthan Sivalingam, Susanne Schoch, Susanne Moebus, Benno Pütz, Axel Hillmer, Nadine Fricker, Hartmut Vatter, Bertram Müller-Myhsok, Markus M. Nöthen, Albert J. Becker, Per Hoffmann, Thomas Sander () and Sven Cichon ()
Additional contact information
Herbert Schulz: University of Cologne
Ann-Kathrin Ruppert: University of Cologne
Stefan Herms: University of Bonn
Christiane Wolf: Max Planck Institute of Psychiatry
Nazanin Mirza-Schreiber: Max Planck Institute of Psychiatry
Oliver Stegle: European Molecular Biology Laboratory, European Bioinformatics Institute
Darina Czamara: Max Planck Institute of Psychiatry
Andreas J. Forstner: University of Bonn
Sugirthan Sivalingam: University of Bonn
Susanne Schoch: University of Bonn Medical Center
Susanne Moebus: University Duisburg-Essen
Benno Pütz: Max Planck Institute of Psychiatry
Axel Hillmer: Genome Institute of Singapore
Nadine Fricker: University of Bonn
Hartmut Vatter: University of Bonn Medical Center
Bertram Müller-Myhsok: Max Planck Institute of Psychiatry
Markus M. Nöthen: University of Bonn
Albert J. Becker: University of Bonn Medical Center
Per Hoffmann: University of Bonn
Thomas Sander: University of Cologne
Sven Cichon: University of Bonn

Nature Communications, 2017, vol. 8, issue 1, 1-11

Abstract: Abstract Emerging evidence emphasizes the strong impact of regulatory genomic elements in neurodevelopmental processes and the complex pathways of brain disorders. The present genome-wide quantitative trait loci analyses explore the cis-regulatory effects of single-nucleotide polymorphisms (SNPs) on DNA methylation (meQTL) and gene expression (eQTL) in 110 human hippocampal biopsies. We identify cis-meQTLs at 14,118 CpG methylation sites and cis-eQTLs for 302 3′-mRNA transcripts of 288 genes. Hippocampal cis-meQTL-CpGs are enriched in flanking regions of active promoters, CpG island shores, binding sites of the transcription factor CTCF and brain eQTLs. Cis-acting SNPs of hippocampal meQTLs and eQTLs significantly overlap schizophrenia-associated SNPs. Correlations of CpG methylation and RNA expression are found for 34 genes. Our comprehensive maps of cis-acting hippocampal meQTLs and eQTLs provide a link between disease-associated SNPs and the regulatory genome that will improve the functional interpretation of non-coding genetic variants in the molecular genetic dissection of brain disorders.

Date: 2017
References: Add references at CitEc
Citations:

Downloads: (external link)
https://www.nature.com/articles/s41467-017-01818-4 Abstract (text/html)

Related works:
This item may be available elsewhere in EconPapers: Search for items with the same title.

Export reference: BibTeX RIS (EndNote, ProCite, RefMan) HTML/Text

Persistent link: https://EconPapers.repec.org/RePEc:nat:natcom:v:8:y:2017:i:1:d:10.1038_s41467-017-01818-4

Ordering information: This journal article can be ordered from
https://www.nature.com/ncomms/

DOI: 10.1038/s41467-017-01818-4

Access Statistics for this article

Nature Communications is currently edited by Nathalie Le Bot, Enda Bergin and Fiona Gillespie

More articles in Nature Communications from Nature
Bibliographic data for series maintained by Sonal Shukla () and Springer Nature Abstracting and Indexing ().