Universität zu Köln

Schulz, Herbert, Ruppert, Ann-Kathrin, Herms, Stefan ORCID: 0000-0002-2786-8200, Wolf, Christiane, Mirza-Schreiber, Nazanin ORCID: 0000-0003-0836-8267, Stegle, Oliver ORCID: 0000-0002-8818-7193, Czamara, Darina, Forstner, Andreas J., Sivalingam, Sugirthan, Schoch, Susanne, Moebus, Susanne, Puetz, Benno, Hillmer, Axel ORCID: 0000-0002-3381-7266, Fricker, Nadine, Vatter, Hartmut, Mueller-Myhsok, Bertram, Noethen, Markus M., Becker, Albert J., Hoffmann, Per, Sander, Thomas and Cichon, Sven ORCID: 0000-0002-9475-086X (2017). Genome-wide mapping of genetic determinants influencing DNA methylation and gene expression in human hippocampus. Nat. Commun., 8. LONDON: NATURE PUBLISHING GROUP. ISSN 2041-1723

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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.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Schulz, Herbert UNSPECIFIED UNSPECIFIED UNSPECIFIED Ruppert, Ann-Kathrin UNSPECIFIED UNSPECIFIED UNSPECIFIED Herms, Stefan UNSPECIFIED orcid.org/0000-0002-2786-8200 UNSPECIFIED Wolf, Christiane UNSPECIFIED UNSPECIFIED UNSPECIFIED Mirza-Schreiber, Nazanin UNSPECIFIED orcid.org/0000-0003-0836-8267 UNSPECIFIED Stegle, Oliver UNSPECIFIED orcid.org/0000-0002-8818-7193 UNSPECIFIED Czamara, Darina UNSPECIFIED UNSPECIFIED UNSPECIFIED Forstner, Andreas J. UNSPECIFIED UNSPECIFIED UNSPECIFIED Sivalingam, Sugirthan UNSPECIFIED UNSPECIFIED UNSPECIFIED Schoch, Susanne UNSPECIFIED UNSPECIFIED UNSPECIFIED Moebus, Susanne UNSPECIFIED UNSPECIFIED UNSPECIFIED Puetz, Benno UNSPECIFIED UNSPECIFIED UNSPECIFIED Hillmer, Axel UNSPECIFIED orcid.org/0000-0002-3381-7266 UNSPECIFIED Fricker, Nadine UNSPECIFIED UNSPECIFIED UNSPECIFIED Vatter, Hartmut UNSPECIFIED UNSPECIFIED UNSPECIFIED Mueller-Myhsok, Bertram UNSPECIFIED UNSPECIFIED UNSPECIFIED Noethen, Markus M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Becker, Albert J. UNSPECIFIED UNSPECIFIED UNSPECIFIED Hoffmann, Per UNSPECIFIED UNSPECIFIED UNSPECIFIED Sander, Thomas UNSPECIFIED UNSPECIFIED UNSPECIFIED Cichon, Sven UNSPECIFIED orcid.org/0000-0002-9475-086X UNSPECIFIED
URN:	urn:nbn:de:hbz:38-211243
DOI:	10.1038/s41467-017-01818-4
Journal or Publication Title:	Nat. Commun.
Volume:	8
Date:	2017
Publisher:	NATURE PUBLISHING GROUP
Place of Publication:	LONDON
ISSN:	2041-1723
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language TRANSCRIPTION FACTOR OCCUPANCY; ALLELE-SPECIFIC EXPRESSION; QUANTITATIVE TRAIT LOCI; HUMAN BRAIN; FACTOR-BINDING; ARRAY DATA; CPG SITES; ASSOCIATION; SNPS; VARIANTS Multiple languages Multidisciplinary Sciences Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/21124