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Implementation of CYP2D6 copy-number imputation panel and frequency of key pharmacogenetic variants in Finnish individuals with a psychotic disorder

Hakkinen, K (författare)
Department of Forensic Psychiatry, Niuvanniemi Hospital, University of Eastern Finland, Kuopio, Finland; Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland
Kiiski, JI (författare)
Department of Clinical Pharmacology, University of Helsinki, Helsinki, Finland; Individualized Drug Therapy Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland
Lahteenvuo, M (författare)
Department 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, T (författare)
Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland; Department of Psychiatry, University of Oulu, Oulu, Finland
Suokas, K (författare)
Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland; Tampere University, Tampere, Finland
Niemi-Pynttari, J (författare)
Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland; Social Services and Health Care Sector, City of Helsinki, Helsinki, Finland
Kieseppa, T (författare)
Institute 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
Mannynsalo, T (författare)
Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland; Social Services and Health Care Sector, City of Helsinki, Helsinki, Finland
Wegelius, A (författare)
Institute 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
Haaki, W (författare)
Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland; Department of Psychiatry, University of Turku and Turku University Hospital, Turku, Finland
Lahdensuo, K (författare)
Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland; Mehiläinen, Helsinki, Finland
Kajanne, R (författare)
Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland
Kaunisto, MA (författare)
Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland
Tuulio-Henriksson, A (författare)
Department of Psychology and Logopedics, Faculty of Medicine, University of Helsinki, Helsinki, Finland
Kampman, Olli (författare)
Tampere University, Tampere, Finland; Department of Psychiatry, Pirkanmaa Hospital District, Tampere, Finland
Hietala, J (författare)
Department of Psychiatry, University of Turku and Turku University Hospital, Turku, Finland
Veijola, J (författare)
Department of Psychiatry, University of Oulu, Oulu, Finland; Department of Psychiatry, Oulu University Hospital, Oulu, Finland
Lonnqvist, J (författare)
Mental Health Unit, Finnish Institute for Health and Welfare, Helsinki, Finland; Department of Psychiatry, University of Helsinki, Helsinki, Finland
Isometsa, E (författare)
University of Helsinki, Helsinki University Hospital, Psychiatry, Helsinki, Finland
Paunio, T (författare)
University 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
Suvisaari, J (författare)
Mental Health Unit, Finnish Institute for Health and Welfare, Helsinki, Finland
Kalso, E (författare)
Pain Clinic, Department of Anesthesiology, Intensive Care and Pain Medicine, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
Niemi, M (författare)
Department 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
Tiihonen, J (författare)
Karolinska 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
Daly, M (författare)
Institute 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
Palotie, A (författare)
Institute 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
Ahola-Olli, AV (författare)
Institute 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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 (creator_code:org_t)
2022-02-23
2022
Engelska.
Ingår i: The pharmacogenomics journal. - : Springer Science and Business Media LLC. - 1473-1150 .- 1470-269X. ; 22:3, s. 166-172
  • Tidskriftsartikel (refereegranskat)
Abstract Ämnesord
Stäng  
  • 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.

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Psykiatri (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Psychiatry (hsv//eng)

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