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Implementation of C...
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Hakkinen, KDepartment of Forensic Psychiatry, Niuvanniemi Hospital, University of Eastern Finland, Kuopio, Finland; Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland
(author)
Implementation of CYP2D6 copy-number imputation panel and frequency of key pharmacogenetic variants in Finnish individuals with a psychotic disorder
- Article/chapterEnglish2022
Publisher, publication year, extent ...
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2022-02-23
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Springer Science and Business Media LLC,2022
Numbers
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LIBRIS-ID:oai:prod.swepub.kib.ki.se:148921599
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http://kipublications.ki.se/Default.aspx?queryparsed=id:148921599URI
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https://doi.org/10.1038/s41397-022-00270-yDOI
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https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-222789URI
Supplementary language notes
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Language:English
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Summary in:English
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Classification
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
Notes
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We demonstrate that CYP2D6 copy-number variation (CNV) can be imputed using existing imputation algorithms. Additionally, we report frequencies of key pharmacogenetic variants in individuals with a psychotic disorder from the genetically bottle-necked population of Finland. We combined GWAS chip and CYP2D6 CNV data from the Breast Cancer Pain Genetics study to construct an imputation panel (n = 902) for CYP2D6 CNV. The resulting data set was used as a CYP2D6 CNV imputation panel in 9262 non-related individuals from the SUPER-Finland study. Based on imputation of 9262 individuals we confirm the higher frequency of CYP2D6 ultrarapid metabolizers and a 22-fold enrichment of the UGT1A1 decreased function variant rs4148323 (UGT1A1*6) in Finland compared with non-Finnish Europeans. Similarly, the NUDT15 variant rs116855232 was highly enriched in Finland. We demonstrate that imputation of CYP2D6 CNV is possible and the methodology enables studying CYP2D6 in large biobanks with genome-wide data.
Subject headings and genre
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Kiiski, JIDepartment of Clinical Pharmacology, University of Helsinki, Helsinki, Finland; Individualized Drug Therapy Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland
(author)
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Lahteenvuo, MDepartment of Forensic Psychiatry, Niuvanniemi Hospital, University of Eastern Finland, Kuopio, Finland; Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland
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Jukuri, TInstitute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland; Department of Psychiatry, University of Oulu, Oulu, Finland
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Suokas, KInstitute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland; Tampere University, Tampere, Finland
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Niemi-Pynttari, JInstitute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland; Social Services and Health Care Sector, City of Helsinki, Helsinki, Finland
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Kieseppa, TInstitute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland; University of Helsinki, Helsinki University Hospital, Psychiatry, Helsinki, Finland; Mental Health Unit, Finnish Institute for Health and Welfare, Helsinki, Finland
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Mannynsalo, TInstitute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland; Social Services and Health Care Sector, City of Helsinki, Helsinki, Finland
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Wegelius, AInstitute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland; University of Helsinki, Helsinki University Hospital, Psychiatry, Helsinki, Finland; Mental Health Unit, Finnish Institute for Health and Welfare, Helsinki, Finland
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Haaki, WInstitute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland; Department of Psychiatry, University of Turku and Turku University Hospital, Turku, Finland
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Lahdensuo, KInstitute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland; Mehiläinen, Helsinki, Finland
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Kajanne, RInstitute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland
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Kaunisto, MAInstitute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland
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Tuulio-Henriksson, ADepartment of Psychology and Logopedics, Faculty of Medicine, University of Helsinki, Helsinki, Finland
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Kampman, OlliTampere University, Tampere, Finland; Department of Psychiatry, Pirkanmaa Hospital District, Tampere, Finland(Swepub:umu)kaol0168
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Hietala, JDepartment of Psychiatry, University of Turku and Turku University Hospital, Turku, Finland
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Veijola, JDepartment of Psychiatry, University of Oulu, Oulu, Finland; Department of Psychiatry, Oulu University Hospital, Oulu, Finland
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Lonnqvist, JMental Health Unit, Finnish Institute for Health and Welfare, Helsinki, Finland; Department of Psychiatry, University of Helsinki, Helsinki, Finland
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Isometsa, EUniversity of Helsinki, Helsinki University Hospital, Psychiatry, Helsinki, Finland
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Paunio, TUniversity of Helsinki, Helsinki University Hospital, Psychiatry, Helsinki, Finland; Mental Health Unit, Finnish Institute for Health and Welfare, Helsinki, Finland; Department of Psychiatry, University of Helsinki, Helsinki, Finland
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Suvisaari, JMental Health Unit, Finnish Institute for Health and Welfare, Helsinki, Finland
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Kalso, EPain Clinic, Department of Anesthesiology, Intensive Care and Pain Medicine, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
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Niemi, MDepartment of Clinical Pharmacology, University of Helsinki, Helsinki, Finland; Individualized Drug Therapy Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland; Department of Clinical Pharmacology, HUS Diagnostic Center, Helsinki University Hospital, Helsinki, Finland
(author)
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Tiihonen, JKarolinska Institutet,Department of Forensic Psychiatry, Niuvanniemi Hospital, University of Eastern Finland, Kuopio, Finland; Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden; Center for Psychiatry Research, Stockholm City Council, Stockholm, Sweden
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Daly, MInstitute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland; Stanley Center for Psychiatric Research, The Broad Institute of MIT (Massachusetts Institute of Technology) and Harvard, MA, Cambridge, United States; Analytical and Translational Genetics Unit, Massachusetts General Hospital, MA, Boston, United States
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Palotie, AInstitute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland; Stanley Center for Psychiatric Research, The Broad Institute of MIT (Massachusetts Institute of Technology) and Harvard, MA, Cambridge, United States; Analytical and Translational Genetics Unit, Massachusetts General Hospital, MA, Boston, United States
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Ahola-Olli, AVInstitute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland; Stanley Center for Psychiatric Research, The Broad Institute of MIT (Massachusetts Institute of Technology) and Harvard, MA, Cambridge, United States; Analytical and Translational Genetics Unit, Massachusetts General Hospital, MA, Boston, United States
(author)
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Department of Forensic Psychiatry, Niuvanniemi Hospital, University of Eastern Finland, Kuopio, Finland; Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, FinlandDepartment of Clinical Pharmacology, University of Helsinki, Helsinki, Finland; Individualized Drug Therapy Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland
(creator_code:org_t)
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In:The pharmacogenomics journal: Springer Science and Business Media LLC22:3, s. 166-1721473-11501470-269X
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- By the author/editor
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Hakkinen, K
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Kiiski, JI
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Lahteenvuo, M
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Jukuri, T
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Suokas, K
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Niemi-Pynttari, ...
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show more...
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Kieseppa, T
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Mannynsalo, T
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Wegelius, A
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Haaki, W
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Lahdensuo, K
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Kajanne, R
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Kaunisto, MA
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Tuulio-Henriksso ...
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Kampman, Olli
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Hietala, J
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Veijola, J
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Lonnqvist, J
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Isometsa, E
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Paunio, T
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Suvisaari, J
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Kalso, E
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Niemi, M
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Tiihonen, J
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Daly, M
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Palotie, A
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Ahola-Olli, AV
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Karolinska Institutet
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Umeå University