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Schulz, Herbert [Author]; Ruppert, Ann-Kathrin [Author]; Moebus, Susanne [Author]; Pütz, Benno [Author]; Hillmer, Axel [Author]; Fricker, Nadine [Author]; Vatter, Hartmut [Author]; Müller-Myhsok, Bertram [Author]; Nöthen, Markus M [Author]; Becker, Albert J [Author]; Hoffmann, Per [Author]; Sander, Thomas [Author]; Herms, Stefan [Author]; Cichon, Sven [Author]; Wolf, Christiane [Author]; Mirza-Schreiber, Nazanin [Author]; Stegle, Oliver [Author]; Czamara, Darina [Author]; Forstner, Andreas J [Author]; Sivalingam, Sugirthan [Author]; Schoch, Susanne [Author]

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

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  • Media type: E-Article
  • Title: Genome-wide mapping of genetic determinants influencing DNA methylation and gene expression in human hippocampus
  • Contributor: Schulz, Herbert [Author]; Ruppert, Ann-Kathrin [Author]; Moebus, Susanne [Author]; Pütz, Benno [Author]; Hillmer, Axel [Author]; Fricker, Nadine [Author]; Vatter, Hartmut [Author]; Müller-Myhsok, Bertram [Author]; Nöthen, Markus M [Author]; Becker, Albert J [Author]; Hoffmann, Per [Author]; Sander, Thomas [Author]; Herms, Stefan [Author]; Cichon, Sven [Author]; Wolf, Christiane [Author]; Mirza-Schreiber, Nazanin [Author]; Stegle, Oliver [Author]; Czamara, Darina [Author]; Forstner, Andreas J [Author]; Sivalingam, Sugirthan [Author]; Schoch, Susanne [Author]
  • imprint: Nature Publishing Group, 2017
  • Published in: Nature Communications 8(1), 1511 (2017). doi:10.1038/s41467-017-01818-4
  • Language: English
  • DOI: https://doi.org/10.1038/s41467-017-01818-4
  • ISSN: 2041-1723
  • Origination:
  • Footnote: Diese Datenquelle enthält auch Bestandsnachweise, die nicht zu einem Volltext führen.
  • Description: 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.
  • Access State: Open Access