Research
Print page Print page
Switch language
The Capital Region of Denmark - a part of Copenhagen University Hospital
Published

Maternally Derived Microduplications at 15q11-q13: Implication of Imprinted Genes in Psychotic Illness

Research output: Contribution to journalJournal articleResearchpeer-review

  1. Mental Health Service Use and Psychopharmacological Treatment Following Psychotic Experiences in Preadolescence

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. GWAS of Suicide Attempt in Psychiatric Disorders and Association With Major Depression Polygenic Risk Scores

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Brain Imaging of the Cortex in ADHD: A Coordinated Analysis of Large-Scale Clinical and Population-Based Samples

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Evidence for the Efficacy of Bright Light Therapy for Bipolar Depression

    Research output: Contribution to journalJournal articleResearchpeer-review

  1. A phenome-wide association and Mendelian Randomisation study of polygenic risk for depression in UK Biobank

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Functional gene networks reveal distinct mechanisms segregating in migraine families

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. The Duffy-null genotype and risk of infection

    Research output: Contribution to journalJournal articleResearchpeer-review

  • Andrés Ingason
  • George Kirov
  • Ina Giegling
  • Thomas Hansen
  • Anthony R Isles
  • Klaus D Jakobsen
  • Kari T Kristinsson
  • Louise le Roux
  • Omar Gustafsson
  • Nick Craddock
  • Hans-Jürgen Möller
  • Andrew McQuillin
  • Pierandrea Muglia
  • Sven Cichon
  • Marcella Rietschel
  • Roel A Ophoff
  • Srdjan Djurovic
  • Ole A Andreassen
  • Olli P H Pietiläinen
  • Leena Peltonen
  • Emma Dempster
  • David A Collier
  • David St Clair
  • Henrik B Rasmussen
  • Birte Y Glenthøj
  • Lambertus A Kiemeney
  • Barbara Franke
  • Sarah Tosato
  • Chiara Bonetto
  • Evald Saemundsen
  • Stefán J Hreidarsson
  • Markus M Nöthen
  • Hugh Gurling
  • Michael C O'Donovan
  • Michael J Owen
  • Engilbert Sigurdsson
  • Hannes Petursson
  • Hreinn Stefansson
  • Dan Rujescu
  • Kari Stefansson
  • Thomas Werge
  • GROUP Investigators
View graph of relations
Objective: Rare copy number variants have been implicated in different neurodevelopmental disorders, with the same copy number variants often increasing risk of more than one of these phenotypes. In a discovery sample of 22 schizophrenia patients with an early onset of illness (10-15 years of age), the authors observed in one patient a maternally derived 15q11-q13 duplication overlapping the Prader-Willi/Angelman syndrome critical region. This prompted investigation of the role of 15q11-q13 duplications in psychotic illness. Method: The authors scanned 7,582 patients with schizophrenia or schizoaffective disorder and 41,370 comparison subjects without known psychiatric illness for copy number variants at 15q11-q13 and determined the parental origin of duplications using methylation-sensitive Southern hybridization analysis. Results: Duplications were found in four case patients and five comparison subjects. All four case patients had maternally derived duplications (0.05%), while only three of the five comparison duplications were maternally derived (0.007%), resulting in a significant excess of maternally derived duplications in case patients (odds ratio=7.3). This excess is compatible with earlier observations that risk for psychosis in people with Prader-Willi syndrome caused by maternal uniparental disomy is much higher than in those caused by deletion of the paternal chromosome. Conclusions: These findings suggest that the presence of two maternal copies of a fragment of chromosome 15q11.2-q13.1 that overlaps with the Prader-Willi/Angelman syndrome critical region may be a rare risk factor for schizophrenia and other psychoses. Given that maternal duplications of this region are among the most consistent cytogenetic observations in autism, the findings provide further support for a shared genetic etiology between autism and psychosis.
Original languageEnglish
JournalAmerican Journal of Psychiatry
Volume168
Issue number4
Pages (from-to)408-417
Number of pages10
ISSN0002-953X
DOIs
Publication statusPublished - 1 Apr 2011

ID: 31069457