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 journalArticleScientificpeer-review


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 languageEnglish
JournalMolecular Psychiatry
Issue number3
Pages (from-to)816–824
Number of pages9
Publication statusPublished - Mar 2021
MoE publication typeA1 Journal article-refereed

Fields of Science

  • 515 Psychology

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