@article{8216b691ae424a1d80cb3227fe2fa748,
title = "Implementation of CYP2D6 copy-number imputation panel and frequency of key pharmacogenetic variants in Finnish individuals with a psychotic disorder",
abstract = "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.",
author = "Katja H{\"a}kkinen and Kiiski, {Johanna I.} and Markku L{\"a}hteenvuo and Tuomas Jukuri and Kimmo Suokas and Jussi Niemi-Pyntt{\"a}ri and Tuula Kiesepp{\"a} and Teemu M{\"a}nnynsalo and Asko Wegelius and Willehard Haaki and Kaisla Lahdensuo and Risto Kajanne and Kaunisto, {Mari A.} and Annamari Tuulio-Henriksson and Olli Kampman and Jarmo Hietala and Juha Veijola and Jouko L{\"o}nnqvist and Erkki Isomets{\"a} and Tiina Paunio and Jaana Suvisaari and Eija Kalso and Mikko Niemi and Jari Tiihonen and Mark Daly and Aarno Palotie and Ahola-Olli, {Ari V.}",
note = "Funding Information: ML is a board member of Genomi Solutions ltd. and Nursie Health ltd., has received honoraria from Sunovion ltd., Orion Pharma ltd., Otsuka ltd. and Janssen-Cilag. Part of MK{\textquoteright}s and RK{\textquoteright}s salaries are covered by a large Finnish biobank study FinnGen, funded by twelve international pharmaceutical companies (Abbvie, AstraZeneca, Biogen, Celgene, Genentech, GSK, Janssen, Maze Therapeutics, Merck/MSD, Novartis, Pfizer and Sanofi) and Business Finland. JT has participated in research projects funded by grants from Janssen-Cilag and Eli Lilly to his employing institution, has received honoraria from Eli Lilly, Janssen-Cilag, Lundbeck and Otsuka, and is a member of advisory board for Lundbeck. AVA is an employee and shareholder of Abomics, a company providing pharmacogenetic consultation services. The other authors declare no conflict of interest. Funding Information: The SUPER-Finland sample collection was funded by The Stanley Center for Psychiatric Research at the Broad Institute of MIT and Harvard, Boston, USA. KH has received funding from The Ministry of Social Affairs and Health Finland, through the developmental fund for Niuvanniemi Hospital, Kuopio, Finland, The Finnish Cultural Foundation, Helsinki, Finland, The Finnish Foundation for Psychiatric Research, Helsinki, Finland, The Social Insurance Institution of Finland, Helsinki, Finland and The Emil Aaltonen Foundation, Tampere, Finland. ML has received funding from The Finnish Medical Foundation, Helsinki, Finland and Emil Aaltonen Foundation, Tampere, Finland. KS has received funding from The Jalmari and Rauha Ahokas Foundation, Helsinki, Finland and The Finnish Foundation for Psychiatric Research, Helsinki, Finland. MN has received funding from Sigrid Jus{\'e}lius Foundation, Helsinki, Finland. AVA has received funding from The Orion Research Foundation, Espoo, Finland, The Juho Vainio Foundation, Helsinki, Finland and The Finnish Post Doc Pool. Open access funding was provided by University of Eastern Finland (UEF) including Kuopio University Hospital. Publisher Copyright: {\textcopyright} 2022, The Author(s).",
year = "2022",
doi = "10.1038/s41397-022-00270-y",
language = "English",
volume = "22",
journal = "PHARMACOGENOMICS JOURNAL",
issn = "1470-269X",
publisher = "Nature Publishing Group",
number = "3",
}
