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:
CreatorsEmailORCIDORCID Put Code
Schulz, HerbertUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ruppert, Ann-KathrinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Herms, StefanUNSPECIFIEDorcid.org/0000-0002-2786-8200UNSPECIFIED
Wolf, ChristianeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mirza-Schreiber, NazaninUNSPECIFIEDorcid.org/0000-0003-0836-8267UNSPECIFIED
Stegle, OliverUNSPECIFIEDorcid.org/0000-0002-8818-7193UNSPECIFIED
Czamara, DarinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Forstner, Andreas J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sivalingam, SugirthanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schoch, SusanneUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Moebus, SusanneUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Puetz, BennoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hillmer, AxelUNSPECIFIEDorcid.org/0000-0002-3381-7266UNSPECIFIED
Fricker, NadineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Vatter, HartmutUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mueller-Myhsok, BertramUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Noethen, Markus M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Becker, Albert J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hoffmann, PerUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sander, ThomasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Cichon, SvenUNSPECIFIEDorcid.org/0000-0002-9475-086XUNSPECIFIED
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:
KeywordsLanguage
TRANSCRIPTION FACTOR OCCUPANCY; ALLELE-SPECIFIC EXPRESSION; QUANTITATIVE TRAIT LOCI; HUMAN BRAIN; FACTOR-BINDING; ARRAY DATA; CPG SITES; ASSOCIATION; SNPS; VARIANTSMultiple languages
Multidisciplinary SciencesMultiple languages
Refereed: Yes
URI: http://kups.ub.uni-koeln.de/id/eprint/21124

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