d-amino acid oxidase activator gene (DAOA) variation affects cerebrospinal fluid homovanillic acid concentrations in healthy Caucasians

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• 作者：Dimitrios Andreou (1) dimitrios.andreou@sll.se
  Peter Saetre (1)
  Thomas Werge (2)
  Ole A. Andreassen (34)
  Ingrid Agartz (156)
  G?ran C. Sedvall (1)
  H?kan Hall (17)
  Lars Terenius (1)
  Erik G. J?nsson (1)
• 关键词：d ; amino acid oxidase activator gene (DAOA) – Cerebrospinal fluid (CSF) – Homovanillic acid (HVA) – 5 ; hydroxyindoleacetic acid (5 ; HIAA) – 3 ; methoxy ; 4 ; hydroxyphenylglycol (MHPG)
• 刊名：European Archives of Psychiatry and Clinical Neuroscience
• 出版年：2012
• 出版时间：October 2012
• 年：2012
• 卷：262
• 期：7
• 页码：549-556
• 全文大小：329.9 KB
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• 作者单位：1. Department of Clinical Neuroscience, HUBIN Project, Karolinska Institutet and Hospital, R5:00, 171 76 Stockholm, Sweden2. Research Institute of Biological Psychiatry, Mental Health Center Sct. Hans, Copenhagen University Hospital, Roskilde, Denmark3. TOP Project, Division of Psychiatry, Ullev?l University Hospital, University of Oslo, Oslo, Norway4. TOP Project, Institute of Clinical Medicine, Psychiatry Section Vinderen, University of Oslo, Oslo, Norway5. Department of Psychiatry, Diakonhjemmet Hospital, Oslo, Norway6. Institute of Psychiatry, University of Oslo, Oslo, Norway7. Department of Public Health and Caring Sciences, Uppsala University, Uppsala, Sweden
• ISSN：1433-8491

文摘

The d-amino acid oxidase activator (DAOA) protein regulates the function of d-amino oxidase (DAO), an enzyme that catalyzes the oxidative deamination of d-3,4-dihydroxyphenylalanine (D-DOPA) and d-serine. D-DOPA is converted to l-3,4-DOPA, a precursor of dopamine, whereas d-serine participates in glutamatergic transmission. We hypothesized that DAOA polymorphisms are associated with dopamine, serotonin and noradrenaline turnover in the human brain. Four single-nucleotide polymorphisms, previously reported to be associated with schizophrenia, were genotyped. Cerebrospinal fluid (CSF) samples were drawn by lumbar puncture, and the concentrations of the major dopamine metabolite homovanillic acid (HVA), the major serotonin metabolite 5-hydroxyindoleacetic acid (5-HIAA) and the major noradrenaline metabolite 3-methoxy-4-hydroxyphenylglycol (MHPG) were measured. Two of the investigated polymorphisms, rs3918342 and rs1421292, were significantly associated with CSF HVA concentrations. Rs3918342 was found to be nominally associated with CSF 5-HIAA concentrations. None of the polymorphisms were significantly associated with MHPG concentrations. Our results indicate that DAOA gene variation affects dopamine turnover in healthy individuals, suggesting that disturbed dopamine turnover is a possible mechanism behind the observed associations between genetic variation in DAOA and behavioral phenotypes in humans.