BMJ Open (Apr 2023)

Cohort profile: SUPER-Finland – the Finnish study for hereditary mechanisms of psychotic disorders

  • Jari Tiihonen,
  • Ari Ahola-Olli,
  • Tiina Paunio,
  • Aarno Palotie,
  • Mark Daly,
  • Risto Kajanne,
  • Erkki Isometsä,
  • Juha Veijola,
  • Jouko Lönnqvist,
  • Olli Kampman,
  • Jaana Suvisaari,
  • Kimmo Suokas,
  • Markku Lähteenvuo,
  • Minna Holm,
  • Zuzanna Misiewicz,
  • Tuomas Jukuri,
  • Teemu Männynsalo,
  • Asko Wegelius,
  • Willehard Haaki,
  • Aija Kyttälä,
  • Annamari Tuulio-Henriksson,
  • Kaisla Lahdensuo,
  • Katja Häkkinen,
  • Jarmo Hietala,
  • Jussi Niemi-Pynttäri,
  • Tuula Kieseppä,
  • Steven Hyman,
  • Benjamin Neale

DOI
https://doi.org/10.1136/bmjopen-2022-070710
Journal volume & issue
Vol. 13, no. 4

Abstract

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Purpose SUPER-Finland is a large Finnish collection of psychosis cases. This cohort also represents the Finnish contribution to the Stanley Global Neuropsychiatric Genetics Initiative, which seeks to diversify genetic sample collection to include Asian, Latin American and African populations in addition to known population isolates, such as Finland.Participants 10 474 individuals aged 18 years or older were recruited throughout the country. The subjects have been genotyped with a genome-wide genotyping chip and exome sequenced. A subset of 897 individuals selected from known population sub-isolates were selected for whole-genome sequencing. Recruitment was done between November 2015 and December 2018.Findings to date 5757 (55.2%) had a diagnosis of schizophrenia, 944 (9.1%) schizoaffective disorder, 1612 (15.5%) type I or type II bipolar disorder, 532 (5.1 %) psychotic depression, 1047 (10.0%) other psychosis and for 530 (5.1%) self-reported psychosis at recruitment could not be confirmed from register data. Mean duration of schizophrenia was 22.0 years at the time of the recruitment. By the end of the year 2018, 204 of the recruited individuals had died. The most common cause of death was cardiovascular disease (n=61) followed by neoplasms (n=40). Ten subjects had psychiatric morbidity as the primary cause of death.Future plans Compare the effects of common variants, rare variants and copy number variations (CNVs) on severity of psychotic illness. In addition, we aim to track longitudinal course of illness based on nation-wide register data to estimate how phenotypic and genetic differences alter it.