title: Common epigenetic variation in a European population of mentally healthy young adults.
abstract: DNA methylation represents an important link between structural genetic variation and complex phenotypes. The study of genome-wide CpG methylation and its relation to traits relevant to psychiatry has become increasingly important. Here, we analyzed quality metrics of 394,043 CpG sites in two samples of 568 and 319 mentally healthy young adults. For 25% of all CpGs we observed medium to large common epigenetic variation. These CpGs were overrepresented in open sea and shore regions, as well as in intergenic regions. They also showed a strong enrichment of significant hits in association analyses. Furthermore, a significant proportion of common DNA methylation is at least partially genetically driven and thus may be observed similarly across tissues. These findings could be of particular relevance for studies of complex neuropsychiatric traits, which often rely on proxy tissues.
authors.affiliation: Division of Molecular Neuroscience, Department of Psychology, University of Basel, CH-4055, Basel, Switzerland; Transfaculty Research Platform Molecular and Cognitive Neurosciences, University of Basel, CH-4055, Basel, Switzerland; Psychiatric University Clinics, University of Basel, CH-4055, Basel, Switzerland. Electronic address: annette.milnik@unibas.ch.
authors.forename: Annette
authors.initials: A
authors.lastname: Milnik
authors.affiliation: Division of Molecular Neuroscience, Department of Psychology, University of Basel, CH-4055, Basel, Switzerland; Transfaculty Research Platform Molecular and Cognitive Neurosciences, University of Basel, CH-4055, Basel, Switzerland; Psychiatric University Clinics, University of Basel, CH-4055, Basel, Switzerland.
authors.forename: Christian
authors.initials: C
authors.lastname: Vogler
authors.affiliation: Transfaculty Research Platform Molecular and Cognitive Neurosciences, University of Basel, CH-4055, Basel, Switzerland; Department Biozentrum, Life Sciences Training Facility, University of Basel, CH-4056, Basel, Switzerland.
authors.forename: Philippe
authors.initials: P
authors.lastname: Demougin
authors.affiliation: Division of Molecular Neuroscience, Department of Psychology, University of Basel, CH-4055, Basel, Switzerland; Transfaculty Research Platform Molecular and Cognitive Neurosciences, University of Basel, CH-4055, Basel, Switzerland.
authors.forename: Tobias
authors.initials: T
authors.lastname: Egli
authors.affiliation: Division of Molecular Neuroscience, Department of Psychology, University of Basel, CH-4055, Basel, Switzerland; Transfaculty Research Platform Molecular and Cognitive Neurosciences, University of Basel, CH-4055, Basel, Switzerland.
authors.forename: Virginie
authors.initials: V
authors.lastname: Freytag
authors.affiliation: Division of Molecular Neuroscience, Department of Psychology, University of Basel, CH-4055, Basel, Switzerland; Transfaculty Research Platform Molecular and Cognitive Neurosciences, University of Basel, CH-4055, Basel, Switzerland.
authors.forename: Francina
authors.initials: F
authors.lastname: Hartmann
authors.affiliation: Division of Molecular Neuroscience, Department of Psychology, University of Basel, CH-4055, Basel, Switzerland; Transfaculty Research Platform Molecular and Cognitive Neurosciences, University of Basel, CH-4055, Basel, Switzerland; Psychiatric University Clinics, University of Basel, CH-4055, Basel, Switzerland.
authors.forename: Angela
authors.initials: A
authors.lastname: Heck
authors.affiliation: Division of Molecular Neuroscience, Department of Psychology, University of Basel, CH-4055, Basel, Switzerland; Transfaculty Research Platform Molecular and Cognitive Neurosciences, University of Basel, CH-4055, Basel, Switzerland; Department Biozentrum, Life Sciences Training Facility, University of Basel, CH-4056, Basel, Switzerland.
authors.forename: Fabian
authors.initials: F
authors.lastname: Peter
authors.affiliation: Transfaculty Research Platform Molecular and Cognitive Neurosciences, University of Basel, CH-4055, Basel, Switzerland; Division of Cognitive Neuroscience, Department of Psychology, University of Basel, CH-4055, Basel, Switzerland.
authors.forename: Klara
authors.initials: K
authors.lastname: Spalek
authors.affiliation: Division of Molecular Neuroscience, Department of Psychology, University of Basel, CH-4055, Basel, Switzerland; Transfaculty Research Platform Molecular and Cognitive Neurosciences, University of Basel, CH-4055, Basel, Switzerland; Psychiatric University Clinics, University of Basel, CH-4055, Basel, Switzerland; Department Biozentrum, Life Sciences Training Facility, University of Basel, CH-4056, Basel, Switzerland.
authors.forename: Attila
authors.initials: A
authors.lastname: Stetak
authors.affiliation: Transfaculty Research Platform Molecular and Cognitive Neurosciences, University of Basel, CH-4055, Basel, Switzerland; Psychiatric University Clinics, University of Basel, CH-4055, Basel, Switzerland; Division of Cognitive Neuroscience, Department of Psychology, University of Basel, CH-4055, Basel, Switzerland.
authors.forename: Dominique J-F
authors.initials: DJ
authors.lastname: de Quervain
authors.affiliation: Division of Molecular Neuroscience, Department of Psychology, University of Basel, CH-4055, Basel, Switzerland; Transfaculty Research Platform Molecular and Cognitive Neurosciences, University of Basel, CH-4055, Basel, Switzerland; Psychiatric University Clinics, University of Basel, CH-4055, Basel, Switzerland; Department Biozentrum, Life Sciences Training Facility, University of Basel, CH-4056, Basel, Switzerland.
authors.forename: Andreas
authors.initials: A
authors.lastname: Papassotiropoulos
authors.affiliation: Division of Molecular Neuroscience, Department of Psychology, University of Basel, CH-4055, Basel, Switzerland; Transfaculty Research Platform Molecular and Cognitive Neurosciences, University of Basel, CH-4055, Basel, Switzerland; Department Biozentrum, Life Sciences Training Facility, University of Basel, CH-4056, Basel, Switzerland.
authors.forename: Vanja
authors.initials: V
authors.lastname: Vukojevic
mesh_terms: D000328:Adult; D018899:CpG Islands / Q000235:genetics*; D019175:DNA Methylation / Q000235:genetics; D044127:Epigenesis, Genetic / Q000235:genetics*; D057890:Epigenomics / Q000379:methods; D005260:Female; D020869:Gene Expression Profiling; D005786:Gene Expression Regulation; D055106:Genome-Wide Association Study; D064368:Healthy Volunteers; D006801:Humans; D008297:Male; D008603:Mental Health; D020411:Oligonucleotide Array Sequence Analysis; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D055815:Young Adult
keywords: CpG methylation; Epigenetics; Illumina Infinium Human Methylation 450K array; Naturally occurring variation; Proxy tissue; Quantitative trait