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Here, we report the examination of DNA methylation status of <jats:italic>DTNBP1<\/jats:italic> promoter region, one of the most credible candidate genes affected in SCZ, assayed in saliva and post\u2010mortem brain samples. The Illumina DNA methylation profiling and bisulfite sequencing of representative samples were used to identify methylation status of the <jats:italic>DTNBP1<\/jats:italic> promoter region. Quantitative methylation specific PCR (qMSP) was employed to assess methylation of <jats:italic>DTNBP1<\/jats:italic> promoter CpGs flanking a SP1 binding site in the saliva of SCZ patients, their first\u2010degree relatives and control subjects (30, 15, and 30\/group, respectively) as well as in post\u2010mortem brains of patients with SCZ and bipolar disorder (BD) versus controls (35\/group). qRT\u2010PCR was used to assess <jats:italic>DTNBP1<\/jats:italic> expression. We found DNA hypermethylation of <jats:italic>DTNBP1<\/jats:italic> promoter in the saliva of SCZ patients (\u223c12.5%, <jats:italic>P<\/jats:italic>\u2009=\u20090.036), particularly in drug\u2010na\u00efve patients (\u223c20%, <jats:italic>P<\/jats:italic>\u2009=\u20090.011), and a trend toward hypermethylation in their first\u2010degree relatives (<jats:italic>P<\/jats:italic>\u2009=\u20090.085) versus controls. Analysis of post\u2010mortem brain samples revealed an inverse correlation between <jats:italic>DTNBP1<\/jats:italic> methylation and expression, and normalization of this epigenetic change by classic antipsychotic drugs. Additionally, BD patients with psychotic depression exhibited higher degree of methylation versus other BD patients (\u223c80%, <jats:italic>P<\/jats:italic>\u2009=\u20090.025). <jats:italic>DTNBP1<\/jats:italic> promoter DNA methylation may become a key element in a panel of biomarkers for diagnosis, prevention, or therapy in SCZ and at risk individuals pending confirmatory studies with larger sample sizes to attain a higher degree of significance. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.b.32361","type":"journal-article","created":{"date-parts":[[2015,8,18]],"date-time":"2015-08-18T16:57:00Z","timestamp":1439917020000},"page":"687-696","source":"Crossref","is-referenced-by-count":72,"title":["Antipsychotic drugs attenuate aberrant DNA methylation of <i>DTNBP1<\/i> (dysbindin) promoter in saliva and post\u2010mortem brain of patients with schizophrenia and Psychotic bipolar disorder"],"prefix":"10.1002","volume":"168","author":[{"given":"Hamid 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of Medicine Iran University of Medical Sciences Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashraf","family":"Mostafavi","sequence":"additional","affiliation":[{"name":"Arian Salamat Counselling and Nursing Services Centre Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sam","family":"Thiagalingam","sequence":"additional","affiliation":[{"name":"Departments of Medicine (Biomedical Genetics Section), Genetics &amp; Genomics Boston University School of Medicine Boston Massachusetts"},{"name":"Department of Pathology and Laboratory Medicine Boston University School of Medicine Boston 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