Department of Forensic Psychiatry, University of Eastern Finland, Niuvanniemi Hospital, Kuopio, Finland
Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.
BMJ Open. 2023 Apr 12;13(4):e070710. doi: 10.1136/bmjopen-2022-070710.
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.
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.
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.
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.
SUPER-Finland 是一个大型的芬兰精神病病例收集项目。该队列还代表了芬兰对 Stanley 全球神经精神遗传学倡议的贡献，该倡议旨在使遗传样本收集多样化，除了已知的人群隔离群体（如芬兰）之外，还包括亚洲、拉丁美洲和非洲人群。
在全国范围内招募了 10474 名年龄在 18 岁或以上的个体。这些受试者已经使用全基因组基因分型芯片和外显子组测序进行了基因分型。从已知人群亚隔离体中选择了 897 名个体的亚组进行全基因组测序。招募工作于 2015 年 11 月至 2018 年 12 月进行。
5757 名（55.2%）有精神分裂症诊断，944 名（9.1%）有分裂情感障碍，1612 名（15.5%）有 I 型或 II 型双相情感障碍，532 名（5.1%）有精神病性抑郁症，1047 名（10.0%）有其他精神病，530 名（5.1%）自我报告的精神病在招募时无法从登记数据中得到证实。在招募时，精神分裂症的平均病程为 22.0 年。到 2018 年底，已招募的 204 名个体死亡。最常见的死因是心血管疾病（n=61），其次是肿瘤（n=40）。有 10 名个体的死亡主要原因是精神疾病。
比较常见变异、罕见变异和拷贝数变异（CNVs）对精神病严重程度的影响。此外，我们旨在根据全国登记数据追踪疾病的纵向病程，以估计表型和遗传差异如何改变它。
