Vertaisarvioitu alkuperäisartikkeli tai data-artikkeli tieteellisessä aikakauslehdessä (A1)

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




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

KustantajaBMJ Publishing Group

Julkaisuvuosi2023

JournalBMJ Open

Tietokannassa oleva lehden nimiBMJ Open

Artikkelin numeroe070710

Volyymi13

Julkaisunumero4

ISSN2044-6055

eISSN2044-6055

DOIhttp://dx.doi.org/10.1136/bmjopen-2022-070710

Verkko-osoitehttps://bmjopen.bmj.com/content/13/4/e070710

Rinnakkaistallenteen osoitehttps://research.utu.fi/converis/portal/detail/Publication/179575055


Tiivistelmä

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.



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Last updated on 2023-20-09 at 12:59