Polygenic risk scores as a marker for epilepsy risk across lifetime and after unspecified seizure events

Approved

Classifications

MinEdu publication type
A1 Journal article (peer-reviewed)
Definition
Article
Target group
Scientific
Peer reviewed
Peer-reviewed
Article type
Journal article
Host publication type
Journal

Authors of the publication

Number of authors
10
Authors
Heyne, Henrike O; Pajuste, Fanny-Dhelia; Wanner, Julian; Onwuchekwa, Jennifer I Daniel; Maegi, Reedik; Palotie, Aarno; FinnGen; Estonian Biobank research team; Kälviäinen, Reetta; Daly, Mark J

Publication channel information

Title of journal/series
Nature communications
ISSN (electronic)
2041-1723
ISSN (linking)
2041-1723
Publication forum ID
63766
Publication forum level
3
Internationality
Yes

Detailed publication information

Publication year
2024
Reporting year
2024
Journal/series volume number
15
Journal/series issue number
1
Article number
6277
DOI
10.1038/s41467-024-50295-z
Language of publication
English

Co-publication information

International co-publication
Yes
Co-publication with a company
No

Availability

Classification and additional information

MinEdu field of science classification
3124 Neurology and psychiatry, 1182 Biochemistry, cell and molecular biology

Funding information

Funding information in the publication
FinnGen: We want to acknowledge the participants and investigators of the FinnGen study. We thank Pietro Della Briotta Parolo for calculating polygenic risk scores in FinnGen. Individuals in FinnGen provided informed consent for biobank research, based on the Finnish Biobank Act. Alternatively, separate research cohorts, collected prior the Finnish Biobank Act came into effect (in September 2013) and start of FinnGen (August 2017), were collected based on study-specific consents and later transferred to the Finnish biobanks after approval by Fimea (Finnish Medicines Agency), the National Supervisory Authority for Welfare and Health. Recruitment protocols followed the biobank protocols approved by Fimea. The Coordinating Ethics Committee of the Hospital District of Helsinki and Uusimaa (HUS) statement number for the FinnGen study is Nr HUS/990/2017. The FinnGen study is approved by Finnish Institute for Health and Welfare (permit numbers: THL/2031/6.02.00/2017, THL/1101/5.05.00/2017, THL/341/6.02.00/2018, THL/2222/6.02.00/2018, THL/283/6.02.00/2019, THL/1721/5.05.00/2019 and THL/1524/5.05.00/2020), Digital and population data service agency (permit numbers: VRK43431/2017-3, VRK/6909/2018-3, VRK/4415/2019-3), the Social Insurance Institution (permit numbers: KELA 58/522/2017, KELA 131/522/2018, KELA 70/522/2019, KELA 98/522/2019, KELA 134/522/2019, KELA 138/522/2019, KELA 2/522/2020, KELA 16/522/2020), Findata permit numbers THL/2364/14.02/2020, THL/4055/14.06.00/2020, THL/3433/14.06.00/2020, THL/4432/14.06/2020, THL/5189/14.06/2020, THL/5894/14.06.00/2020, THL/6619/14.06.00/2020, THL/209/14.06.00/2021, THL/688/14.06.00/2021, THL/1284/14.06.00/2021, THL/1965/14.06.00/2021, THL/5546/14.02.00/2020, THL/2658/14.06.00/2021, THL/4235/14.06.00/2021, Statistics Finland (permit numbers: TK-53-1041-17 and TK/143/07.03.00/2020 (earlier TK-53-90-20) TK/1735/07.03.00/2021, TK/3112/07.03.00/2021) and Finnish Registry for Kidney Diseases permission/extract from the meeting minutes on 4th July 2019. The Biobank Access Decisions for FinnGen samples and data utilized in FinnGen Data Freeze 11 include: THL Biobank BB2017_55, BB2017_111, BB2018_19, BB_2018_34, BB_2018_67, BB2018_71, BB2019_7, BB2019_8, BB2019_26, BB2020_1, BB2021_65, Finnish Red Cross Blood Service Biobank 7.12.2017, Helsinki Biobank HUS/359/2017, HUS/248/2020, HUS/430/2021 28, 29, HUS/150/2022 12, 13, 14, 15, 16, 17, 18, 23, 58, 59, HUS/128/2023 18, Auria Biobank AB17-5154 and amendment #1 (August 17 2020) and amendments BB_2021-0140, BB_2021-0156 (August 26 2021, Feb 2 2022), BB_2021-0169, BB_2021-0179, BB_2021-0161, AB20-5926 and amendment #1 (April 23 2020) and it<acute accent>s modifications (Sep 22 2021), BB_2022-0262, BB_2022-0256, Biobank Borealis of Northern Finland_2017_1013, 2021_5010, 2021_5010 Amendment, 2021_5018, 2021_5018 Amendment, 2021_5015, 2021_5015 Amendment, 2021_5015 Amendment_2, 2021_5023, 2021_5023 Amendment, 2021_5023 Amendment_2, 2021_5017, 2021_5017 Amendment, 2022_6001, 2022_6001 Amendment, 2022_6006 Amendment, 2022_6006 Amendment, 2022_6006 Amendment_2, BB22-0067, 2022_0262, 2022_0262 Amendment, Biobank of Eastern Finland 1186/2018 and amendment 22 /2020, 53 /2021, 13 /2022, 14 /2022, 15 /2022, 27 /2022, 28 /2022, 29 /2022, 33 /2022, 35 /2022, 36 /2022, 37 /2022, 39 /2022, 7 /2023, 32 /2023, 33 /2023, 34 /2023, 35 /2023, 36 /2023, 37 /2023, 38 /2023, 39 /2023, 40 /2023, 41 /2023, Finnish Clinical Biobank Tampere MH0004 and amendments (21.02.2020 & 06.10., 2020), BB2021-0140 8 /2021, 9 /2021, 9/2022, 10/2022, 12/2022, 13 /2022, 20/2022, 21/2022, 22/2022, 23/2022, 28 /2022, 29 /2022, 30 /2022, 31 /2022, 32 /2022, 38 /2022, 40 /2022, 42 /2022, 1 /2023, Central Finland Biobank 1-2017, BB_2021-0161, BB_2021-0169, BB_2021-0179, BB_2021-0170, BB_2022-0256, BB_2022-0262, BB22-0067, Decision allowing to continue data processing until 31st Aug 2024 for projects: BB_2021-0179, BB22-0067,BB_2022-0262, BB_2021-0170, BB_2021-0164, BB_2021-0161, and BB_2021-0169, and Terveystalo Biobank STB 2018001 and amendment 25th Aug 2020, Finnish Hematological Registry and Clinical Biobank decision 18th June 2021, Arctic biobank P0844: ARC_2021_1001. Following biobanks are acknowledged for delivering biobank samples to FinnGen: Auria Biobank (www.auria.fi/biopankki), THL Biobank (www.thl.fi/biobank), Helsinki Biobank (www.helsinginbiopankki.fi), Biobank Borealis of Northern Finland (https://www.ppshp.fi/Tutkimus-ja-opetus/Biopankki/Pages/Biobank-Borealis-briefly-in-English.aspx), Finnish Clinical Biobank Tampere (www.tays.fi/en-US/Research_and_development/Finnish_Clinical_Biobank_Tampere), Biobank of Eastern Finland (www.ita-suomenbiopankki.fi/en), Central Finland Biobank (www.ksshp.fi/fi-FI/Potilaalle/Biopankki), Finnish Red Cross Blood Service Biobank (www.veripalvelu.fi/verenluovutus/biopankkitoiminta), Terveystalo Biobank (www.terveystalo.com/fi/Yritystietoa/Terveystalo-Biopankki/Biopankki/) and Arctic Biobank (https://www.oulu.fi/en/university/faculties-and-units/faculty-medicine/northern-finland-birth-cohorts-and-arctic-biobank). All Finnish Biobanks are members of BBMRI.fi infrastructure (www.bbmri.fi). Finnish Biobank Cooperative -FINBB (https://finbb.fi/) is the coordinator of BBMRI-ERIC operations in Finland. Estonian biobank: We want to acknowledge the participants and investigators of the Estonian biobank (EstBB). The EstBB is a population-based biobank managed by the Institute of Genomics at the University of Tartu. It currently contains genotype data and health information for more than 200,000 participants, representing almost 20% of Estonia's adult population. All participants have provided broad written consent that covers the provision of samples for future research use along with the acquisition of electronic health records from national registries and databases. The activities of the EstBB are regulated by the Human Genes Research Act, which was adopted in 2000 specifically for the operations of the EstBB. Individual level data analysis in the EstBB was carried out under ethical approval 1.1-12/624 from the Estonian Committee on Bioethics and Human Research (Estonian Ministry of Social Affairs), using data according to release application 6-7/GI/11577 from the Estonian Biobank. Data analysis was carried out in part in the High-Performance Computing Center of University of Tartu. BioMe biobank: We want to acknowledge the participants and investigators of the BioMe cohort. Founded in September 2007, BioMe is a biobank that links genetic and EMR data for more than 50,000 individuals from diverse ancestral and cultural backgrounds recruited primarily in ambulatory care settings in the Mount Sinai Health System (MSHS) in New York City. The current study was approved by the Icahn School of Medicine at Mount Sinai Institutional Review Board (IRB; approval STUDY-19-00951). All study participants provided written informed consent., This work was supported in part through the computational and data resources and staff expertise provided by Scientific Computing and Data at the Icahn School of Medicine at Mount Sinai and supported by the Clinical and Translational Science Awards (CTSA) grant UL1TR004419 from the National Center for Advancing Translational Sciences. The FinnGen project is funded by two grants from Business Finland (HUS 4685/31/2016 and UH 4386/31/2016) and by thirteen industry partners (AbbVie Inc, AstraZeneca UK Ltd, Biogen MA Inc, Celgene Corporation, Celgene International II Sarl, Genentech Inc, Merck Sharp & Dohme Corp, Pfizer Inc., GlaxoSmithKline Intellectual Property Development Ltd., Sanofi US Services Inc., Maze Therapeutics Inc., Janssen Biotech Inc, Novartis AG and Boehringer Ingelheim International GmbH). The EstBB project was funded by the European Union through the European Regional Development Fund Project No. 2014-2020.4.01.15-0012 GENTRANSMED. Work with the BioMe biobank was supported in part through the computational and data resources and staff expertise provided by Scientific Computing and Data at the Icahn School of Medicine at Mount Sinai, the Clinical and Translational Science Awards (CTSA) grant UL1TR004419 from the National Center for Advancing Translational Sciences and Office of Research Infrastructure of the National Institutes of Health under award number S10OD026880. This work was funded by the Hasso Plattner Foundation (HPF). This work was supported by the Academy of Finland Center of Excellence in Complex Disease Genetics (grant number 312075 to M.D and 312074 to A.P), the National Institutes of Health (grant number NIH/1R01NS106104-01A1 to A.P.), the Estonian Research Council (R.M. and F.-D.P. were supported by grant PRG1911 and TK214) and the German Research Foundation (DFG, grant number 516649954 to H.O.H.).

Source database ID

WoS ID
WOS:001277997800001
Scopus ID
2-s2.0-85199597125