Variants in regulatory elements of PDE4D associate with major mental illness in the Finnish population

Vishal Sinha; Liisa Ukkola-Vuoti; Alfredo Ortega-Alonso; Minna Torniainen-Holm; Sebastian Therman; Annamari Tuulio-Henriksson; Pekka Jylhä; Jaakko Kaprio; Iiris Hovatta; Erkki Isometsä; Tyrone D. Cannon; Jouko Lönnqvist; Tiina Paunio; Jaana Suvisaari; William Hennah

doi:10.1038/s41380-019-0429-x

Variants in regulatory elements of PDE4D associate with major mental illness in the Finnish population

Vishal Sinha, Liisa Ukkola-Vuoti, Alfredo Ortega-Alonso, Minna Torniainen-Holm, Sebastian Therman, Annamari Tuulio-Henriksson, Pekka Jylhä, Jaakko Kaprio, Iiris Hovatta, Erkki Isometsä, Tyrone D. Cannon, Jouko Lönnqvist, Tiina Paunio, Jaana Suvisaari, William Hennah

Research output: Contribution to journal › Article › Scientific › peer-review

Abstract

We have previously reported a replicable association between variants at the PDE4D gene and familial schizophrenia in a Finnish cohort. In order to identify the potential functional mutations underlying these previous findings, we sequenced 1.5 Mb of the PDE4D genomic locus in 20 families (consisting of 96 individuals and 79 independent chromosomes), followed by two stages of genotyping across 6668 individuals from multiple Finnish cohorts for major mental illnesses. We identified 4570 SNPs across the PDE4D gene, with 380 associated to schizophrenia (p

Original language	English
Journal	Molecular Psychiatry
Volume	26
Issue number	3
Pages (from-to)	816–824
Number of pages	9
ISSN	1359-4184
DOIs	https://doi.org/10.1038/s41380-019-0429-x
Publication status	Published - Mar 2021
MoE publication type	A1 Journal article-refereed

Fields of Science

515 Psychology

Access to Document

10.1038/s41380-019-0429-x

Cite this

Sinha, V., Ukkola-Vuoti, L., Ortega-Alonso, A., Torniainen-Holm, M., Therman, S., Tuulio-Henriksson, A., Jylhä, P., Kaprio, J., Hovatta, I., Isometsä, E., Cannon, T. D., Lönnqvist, J., Paunio, T., Suvisaari, J., & Hennah, W. (2021). Variants in regulatory elements of PDE4D associate with major mental illness in the Finnish population. Molecular Psychiatry, 26(3), 816–824. https://doi.org/10.1038/s41380-019-0429-x

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abstract = "We have previously reported a replicable association between variants at the PDE4D gene and familial schizophrenia in a Finnish cohort. In order to identify the potential functional mutations underlying these previous findings, we sequenced 1.5 Mb of the PDE4D genomic locus in 20 families (consisting of 96 individuals and 79 independent chromosomes), followed by two stages of genotyping across 6668 individuals from multiple Finnish cohorts for major mental illnesses. We identified 4570 SNPs across the PDE4D gene, with 380 associated to schizophrenia (p",

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author = "Vishal Sinha and Liisa Ukkola-Vuoti and Alfredo Ortega-Alonso and Minna Torniainen-Holm and Sebastian Therman and Annamari Tuulio-Henriksson and Pekka Jylh{\"a} and Jaakko Kaprio and Iiris Hovatta and Erkki Isomets{\"a} and Cannon, {Tyrone D.} and Jouko L{\"o}nnqvist and Tiina Paunio and Jaana Suvisaari and William Hennah",

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Sinha, V, Ukkola-Vuoti, L, Ortega-Alonso, A, Torniainen-Holm, M, Therman, S, Tuulio-Henriksson, A , Jylhä, P , Kaprio, J , Hovatta, I , Isometsä, E, Cannon, TD, Lönnqvist, J , Paunio, T, Suvisaari, J & Hennah, W 2021, 'Variants in regulatory elements of PDE4D associate with major mental illness in the Finnish population', Molecular Psychiatry, vol. 26, no. 3, pp. 816–824. https://doi.org/10.1038/s41380-019-0429-x

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T1 - Variants in regulatory elements of PDE4D associate with major mental illness in the Finnish population

AU - Sinha, Vishal

AU - Ukkola-Vuoti, Liisa

AU - Ortega-Alonso, Alfredo

AU - Torniainen-Holm, Minna

AU - Therman, Sebastian

AU - Tuulio-Henriksson, Annamari

AU - Jylhä, Pekka

AU - Kaprio, Jaakko

AU - Hovatta, Iiris

AU - Isometsä, Erkki

AU - Cannon, Tyrone D.

AU - Lönnqvist, Jouko

AU - Paunio, Tiina

AU - Suvisaari, Jaana

AU - Hennah, William

PY - 2021/3

Y1 - 2021/3

N2 - We have previously reported a replicable association between variants at the PDE4D gene and familial schizophrenia in a Finnish cohort. In order to identify the potential functional mutations underlying these previous findings, we sequenced 1.5 Mb of the PDE4D genomic locus in 20 families (consisting of 96 individuals and 79 independent chromosomes), followed by two stages of genotyping across 6668 individuals from multiple Finnish cohorts for major mental illnesses. We identified 4570 SNPs across the PDE4D gene, with 380 associated to schizophrenia (p

AB - We have previously reported a replicable association between variants at the PDE4D gene and familial schizophrenia in a Finnish cohort. In order to identify the potential functional mutations underlying these previous findings, we sequenced 1.5 Mb of the PDE4D genomic locus in 20 families (consisting of 96 individuals and 79 independent chromosomes), followed by two stages of genotyping across 6668 individuals from multiple Finnish cohorts for major mental illnesses. We identified 4570 SNPs across the PDE4D gene, with 380 associated to schizophrenia (p

KW - 515 Psychology

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DO - 10.1038/s41380-019-0429-x

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JF - Molecular Psychiatry

SN - 1359-4184

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