title: Substantial SNP-based heritability estimates for working memory performance.
abstract: Working memory (WM) is an important endophenotype in neuropsychiatric research and its use in genetic association studies is thought to be a promising approach to increase our understanding of psychiatric disease. As for any genetically complex trait, demonstration of sufficient heritability within the specific study context is a prerequisite for conducting genetic studies of that trait. Recently developed methods allow estimating trait heritability using sets of common genetic markers from genome-wide association study (GWAS) data in samples of unrelated individuals. Here we present single-nucleotide polymorphism (SNP)-based heritability estimates (h(2)SNP) for a WM phenotype. A Caucasian sample comprising a total of N=2298 healthy and young individuals was subjected to an N-back WM task. We calculated the genetic relationship between all individuals on the basis of genome-wide SNP data and performed restricted maximum likelihood analyses for variance component estimation to derive the h(2)SNP estimates. Heritability estimates for three 2-back derived WM performance measures based on all autosomal chromosomes ranged between 31 and 41%, indicating a substantial SNP-based heritability for WM traits. These results indicate that common genetic factors account for a prominent part of the phenotypic variation in WM performance. Hence, the application of GWAS on WM phenotypes is a valid method to identify the molecular underpinnings of WM.
authors.affiliation: 1] Division of Molecular Neuroscience, Department of Psychology, University of Basel, Basel, Switzerland [2] Psychiatric University Clinics, University of Basel, Basel, Switzerland [3] Transfaculty Research Platform, University of Basel, Basel, Switzerland [4] Department Biozentrum, Life Sciences Training Facility, University of Basel, Basel, Switzerland.
authors.forename: C
authors.initials: C
authors.lastname: Vogler
authors.affiliation: 1] Division of Molecular Neuroscience, Department of Psychology, University of Basel, Basel, Switzerland [2] Division of Cognitive Neuroscience, Department of Psychology, University of Basel, Basel, Switzerland.
authors.forename: L
authors.initials: L
authors.lastname: Gschwind
authors.affiliation: Division of Cognitive Neuroscience, Department of Psychology, University of Basel, Basel, Switzerland.
authors.forename: D
authors.initials: D
authors.lastname: Coynel
authors.affiliation: Division of Molecular Neuroscience, Department of Psychology, University of Basel, Basel, Switzerland.
authors.forename: V
authors.initials: V
authors.lastname: Freytag
authors.affiliation: 1] Division of Molecular Neuroscience, Department of Psychology, University of Basel, Basel, Switzerland [2] Psychiatric University Clinics, University of Basel, Basel, Switzerland.
authors.forename: A
authors.initials: A
authors.lastname: Milnik
authors.affiliation: Division of Molecular Neuroscience, Department of Psychology, University of Basel, Basel, Switzerland.
authors.forename: T
authors.initials: T
authors.lastname: Egli
authors.affiliation: 1] Division of Molecular Neuroscience, Department of Psychology, University of Basel, Basel, Switzerland [2] Psychiatric University Clinics, University of Basel, Basel, Switzerland [3] Transfaculty Research Platform, University of Basel, Basel, Switzerland.
authors.forename: A
authors.initials: A
authors.lastname: Heck
authors.affiliation: 1] Psychiatric University Clinics, University of Basel, Basel, Switzerland [2] Transfaculty Research Platform, University of Basel, Basel, Switzerland [3] Division of Cognitive Neuroscience, Department of Psychology, University of Basel, Basel, Switzerland.
authors.forename: D J-F
authors.initials: DJ
authors.lastname: de Quervain
authors.affiliation: 1] Division of Molecular Neuroscience, Department of Psychology, University of Basel, Basel, Switzerland [2] Psychiatric University Clinics, University of Basel, Basel, Switzerland [3] Transfaculty Research Platform, University of Basel, Basel, Switzerland [4] Department Biozentrum, Life Sciences Training Facility, University of Basel, Basel, Switzerland.
authors.forename: A
authors.initials: A
authors.lastname: Papassotiropoulos
mesh_terms: D000293:Adolescent; D000328:Adult; D058068:Endophenotypes; D005260:Female; D055106:Genome-Wide Association Study; D006801:Humans; D008297:Male; D008570:Memory, Short-Term / Q000502:physiology*; D009483:Neuropsychological Tests / Q000706:statistics & numerical data; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011594:Psychometrics; D011930:Reaction Time / Q000235:genetics; D055815:Young Adult