The Finnish SUPER study

The Finnish SUPER study on genetic mechanisms of psychotic disorders is a part of the international Stanley Global Neuropsychiatric Genomics Initiative (The Stanley Center for Psychiatric Research at the Broad Institute of MIT and Harvard).

The objective of the study is to better understand the genetic and biological background of psychotic disorders in order to provide more accurate information for the development of new therapeutic interventions. 

The national study was launched in early 2016 and the sample collection was completed by the end of 2018. During this time, SUPER study recruited 10,470 individuals. Inclusion criteria was at least one psychotic episode during life-time. Patients were contacted during normal course of treatment at hospitals, nursing facilities and health care centers.

Five university hospital districts were involved in sample collection. The study was coordinated by Institute for Molecular Medicine Finland (FIMM), University of Helsinki and the Finnish Institute for Health and Welfare (THL). 

Col­lec­ted phen­o­type data

  • The study participants were asked to fill out a questionnaire followed by an interview with a study nurse
  • Cognitive assessment was performed by two computerized tasks from the Cambridge Neuropsychological Test Automated Battery (CANTAB)
  • A unique feature for Finland are nationwide registers, kept for administrative and statistical purposes, which provide a tool to study disease trajectories

Sample col­lec­tion and gen­o­typ­ing

  • Blood samples were collected by venipuncture for DNA extraction, serum and plasma analyses (N = 9961), and from a subset of participants DNA was extracted from saliva samples (N = 509)
  • RNA-samples were collected from 1500 participants
  • If the study participant gave consent, an extra blood sample was collected for isolation of peripheral blood mononuclear cells (PBMC) to be used later for induced pluripotent stem cell (IPSC) production (N = 5224)
  • DNA samples were genotyped using Illumina Global Screening Array and exome sequenced to identify rare coding variants
The Principal Investigator leading the study