Preprint open access publication

The iPSYCH2012 case-cohort sample: New directions for unravelling genetic and environmental architectures of severe mental disorders

bioRxiv, Cold Spring Harbor Laboratory,


DOI:10.1101/146670, Dimensions: pub.1091919936,



  1. (1) Lundbeck Foundation, grid.452548.a
  2. (2) Aarhus University, grid.7048.b, AU
  3. (3) State Serum Institute, grid.6203.7
  4. (4) Park Centre for Mental Health, grid.417162.7
  5. (5) University of Queensland, grid.1003.2
  6. (6) Broad Institute, grid.66859.34
  7. (7) Massachusetts General Hospital, grid.32224.35
  8. (8) Aarhus University Hospital, grid.154185.c, Central Denmark Region
  9. (9) Copenhagen University Hospital, Mental Health Centre Copenhagen, Capital Region of Denmark, Denmark
  10. (10) Institute of Biological Psychiatry, Mental Health Centre Sct. Hans, Capital Region of Denmark, Copenhagen University Hospital, Denmark


The iPSYCH consortium has established a large Danish population-based Case-Cohort sample (iPSYCH2012) aimed at unravelling the genetic and environmental architecture of severe mental disorders. The iPSYCH2012 sample is nested within the entire Danish population born 1981-2005 including 1,472,762 persons. This paper introduces the iPSYCH2012 sample and outlines key future research directions. Cases were identified as persons with schizophrenia (N=3,540), autism (N=16,146), ADHD (N=18,726), and affective disorder (N=26,380), of which 1928 had bipolar affective disorder. Controls were randomly sampled individuals (N=30,000). Within the sample of 86,189 individuals, a total of 57,377 individuals had at least one major mental disorder. DNA was extracted from the neonatal dried blood spot samples obtained from the Danish Neonatal Screening Biobank and genotyped using the Illumina PsychChip. Genotyping was successful for 90% of the sample. The assessments of exome sequencing, methylation profiling, metabolome profiling, vitamin-D, inflammatory and neurotrophic factors are in progress. For each individual, the iPSYCH2012 sample also includes longitudinal information on health, prescribed medicine, social and socioeconomic information and analogous information among relatives. To the best of our knowledge, the iPSYCH2012 sample is the largest and most comprehensive data source for the combined study of genetic and environmental aetiologies of severe mental disorders.

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