The effect of a genetic variant at the schizophrenia associated AS3MT/BORCS7 locus on striatal dopamine function: A PET imaging study.

Adult Chromosomes, Human, Pair 10 / genetics Corpus Striatum / metabolism Cytoskeletal Proteins / genetics Dihydroxyphenylalanine / analogs & derivatives Dopamine / metabolism Female Genetic Predisposition to Disease Healthy Volunteers Humans Male Methyltransferases / genetics Polymorphism, Single Nucleotide / genetics Positron-Emission Tomography Schizophrenia / diagnostic imaging
10q24.32 Dopamine synthesis capacity Imaging PET Psychosis Schizophrenia Striatum

Journal

Psychiatry research. Neuroimaging
ISSN: 1872-7506
Titre abrégé: Psychiatry Res Neuroimaging
Pays: Netherlands
ID NLM: 101723001

Informations de publication

Date de publication:
30 09 2019
Historique:
received: 05 02 2019
revised: 28 05 2019
accepted: 18 07 2019
pubmed: 7 8 2019
medline: 25 3 2020
entrez: 7 8 2019
Statut: ppublish

Résumé

One of the most statistically significant loci to result from large-scale GWAS of schizophrenia is 10q24.32. However, it is still unclear how this locus is involved in the pathoaetiology of schizophrenia. The hypothesis that presynaptic dopamine dysfunction underlies schizophrenia is one of the leading theories of the pathophysiology of the disorder. Supporting this, molecular imaging studies show evidence for elevated dopamine synthesis and release capacity. Thus, altered dopamine function could be a potential mechanism by which this genetic variant acts to increase the risk of schizophrenia. We therefore tested the hypothesis that the 10q24.32 region confers genetic risk for schizophrenia through an effect on striatal dopamine function. To this aim we investigated the in vivo relationship between a GWAS schizophrenia-associated SNP within this locus and dopamine synthesis capacity measured using [

Identifiants

DOI: 10.1016/j.pscychresns.2019.07.005 PMID: 31386983 PMC: PMC7099976
pubmed: 31386983
pii: S0925-4927(19)30041-1
doi: 10.1016/j.pscychresns.2019.07.005
pmc: PMC7099976
mid: EMS86068
pii:
doi:

Substances chimiques

BORCS7 protein, human 0
Cytoskeletal Proteins 0
fluorodopa F 18 2C598205QX
Dihydroxyphenylalanine 63-84-3
Methyltransferases EC 2.1.1.-
AS3MT protein, human EC 2.1.1.137
Dopamine VTD58H1Z2X

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

34-41

Subventions

Organisme : Medical Research Council
ID : MR/L022176/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/L010305/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MC_U120097115
Pays : United Kingdom
Organisme : Medical Research Council
ID : MC-A656-5QD30
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 094849/Z/10/Z
Pays : United Kingdom
Organisme : Department of Health
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/N027078/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/N026063/1
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 094849
Pays : United Kingdom
Organisme : Medical Research Council
ID : G0700995
Pays : United Kingdom
Organisme : Wellcome Trust
Pays : United Kingdom

Informations de copyright

Copyright © 2019. Published by Elsevier B.V.

Références

Transl Psychiatry. 2016 Mar 01;6:e747
pubmed: 26926883
Mol Psychiatry. 2017 Jul;22(7):954-960
pubmed: 27922604
Arch Gen Psychiatry. 2012 Aug;69(8):776-86
pubmed: 22474070
J Comp Neurol. 1995 Jan 23;351(4):509-35
pubmed: 7721981
Lancet. 2016 Jul 2;388(10039):86-97
pubmed: 26777917
Genet Epidemiol. 2015 May;39(4):276-93
pubmed: 25810074
Am J Psychiatry. 2019 Jan 1;176(1):12-20
pubmed: 30848926
Arch Gen Psychiatry. 1987 Jul;44(7):660-9
pubmed: 3606332
Mov Disord. 1993 Jul;8(3):298-304
pubmed: 8341294
Am J Hum Genet. 2015 Mar 5;96(3):377-85
pubmed: 25683123
Nat Genet. 2013 Oct;45(10):1150-9
pubmed: 23974872
Nat Genet. 2011 Sep 18;43(10):977-83
pubmed: 21926972
Proc Natl Acad Sci U S A. 1994 Nov 22;91(24):11651-4
pubmed: 7972118
Nucleic Acids Res. 2001 Jan 1;29(1):308-11
pubmed: 11125122
Science. 2008 Feb 22;319(5866):1100-4
pubmed: 18292342
Nat Neurosci. 2015 Jan;18(1):154-161
pubmed: 25501035
Mol Psychiatry. 2018 Aug;23(8):1711-1716
pubmed: 29112197
Am J Med Genet B Neuropsychiatr Genet. 2016 Sep;171(6):806-14
pubmed: 27004590
Biol Psychiatry. 2017 Aug 1;82(3):165-175
pubmed: 28283186
Mol Neuropsychiatry. 2017 Feb;2(4):213-218
pubmed: 28277567
Neuroimage. 2010 Apr 1;50(2):524-531
pubmed: 20034580
Behav Genet. 2003 Jan;33(1):67-72
pubmed: 12645823
Psychopharmacology (Berl). 2019 Apr;236(4):1119-1129
pubmed: 30887059
Postgrad Med J. 2003 Jul;79(933):391-6
pubmed: 12897217
Nat Genet. 2011 Sep 18;43(10):969-76
pubmed: 21926974
Mol Psychiatry. 2011 Sep;16(9):885-6
pubmed: 21358709
Biol Psychiatry. 2014 Mar 15;75(6):470-8
pubmed: 23820822
Nature. 1983 Sep 8-14;305(5930):137-8
pubmed: 6604227
Nature. 2014 Jul 24;511(7510):421-7
pubmed: 25056061
Neuropsychopharmacology. 2014 Sep;39(10):2397-404
pubmed: 24718373
Biol Psychiatry. 2009 Jun 15;65(12):1091-3
pubmed: 19167701
Am J Psychiatry. 1991 Nov;148(11):1474-86
pubmed: 1681750
Arch Gen Psychiatry. 2009 Jan;66(1):13-20
pubmed: 19124684
Curr Opin Genet Dev. 2012 Jun;22(3):238-44
pubmed: 22424801
J Neurosci. 2007 Nov 7;27(45):12390-5
pubmed: 17989303
Biol Psychiatry. 2012 Mar 15;71(6):561-7
pubmed: 22133268
J Cereb Blood Flow Metab. 2003 Mar;23(3):285-300
pubmed: 12621304
Am J Med Genet B Neuropsychiatr Genet. 2018 Jan;177(1):40-49
pubmed: 29159863
Nat Neurosci. 2002 Mar;5(3):267-71
pubmed: 11865311
Nat Protoc. 2010 Sep;5(9):1564-73
pubmed: 21085122
Front Cell Neurosci. 2013 Dec 19;7:260
pubmed: 24391541
Elife. 2017 Nov 28;6:
pubmed: 29179814
Biol Psychiatry. 2017 Jan 1;81(1):9-20
pubmed: 27720198
Nat Neurosci. 2016 Jan;19(1):48-54
pubmed: 26619357
J Psychopharmacol. 1999 Dec;13(4):358-71
pubmed: 10667612
Lancet. 2014 May 10;383(9929):1677-1687
pubmed: 24315522
Nat Med. 2016 Jun;22(6):649-56
pubmed: 27158905
Nat Genet. 2018 Mar;50(3):381-389
pubmed: 29483656
J Cereb Blood Flow Metab. 1999 Nov;19(11):1189-208
pubmed: 10566965
J Neurosci. 2007 Jul 25;27(30):8080-7
pubmed: 17652599
Lancet. 2013 Apr 20;381(9875):1371-1379
pubmed: 23453885
Neurosci Lett. 2010 Feb 12;470(2):134-8
pubmed: 20045719
Biol Psychiatry. 2008 Jan 1;63(1):114-7
pubmed: 17655830
Brain. 2013 Nov;136(Pt 11):3242-51
pubmed: 24097339
Pharmacopsychiatry. 2003 Nov;36 Suppl 3:S152-7
pubmed: 14677072
Transl Psychiatry. 2017 Feb 7;7(2):e1027
pubmed: 28170002
Neuron. 2014 Nov 5;84(3):537-41
pubmed: 25442931
JAMA Psychiatry. 2017 Dec 1;74(12):1206-1213
pubmed: 29049482
Proc Natl Acad Sci U S A. 2000 Jul 5;97(14):8104-9
pubmed: 10884434
Brain. 2012 Aug;135(Pt 8):2449-57
pubmed: 22843413
Schizophr Bull. 2010 May;36(3):472-85
pubmed: 20453041
Genome Res. 2009 Sep;19(9):1655-64
pubmed: 19648217
Schizophr Res. 1999 Jan 4;35(1):41-50
pubmed: 9988840
Schizophr Bull. 2009 May;35(3):549-62
pubmed: 19325164
NPJ Genom Med. 2019 Jan 21;4:1
pubmed: 30675382
Nat Rev Neurosci. 2017 Dec;18(12):727-740
pubmed: 29070826
Biol Psychiatry. 2015 Jun 1;77(11):e43-51
pubmed: 25592863
Med Image Anal. 1996 Jun;1(2):163-75
pubmed: 9873927
J Neurosci. 2017 May 10;37(19):4982-4991
pubmed: 28416594
J Psychopharmacol. 2015 Feb;29(2):97-115
pubmed: 25586400
Behav Genet. 2011 Sep;41(5):768-75
pubmed: 21305351
Am J Psychiatry. 2011 Dec;168(12):1311-7
pubmed: 21768612
Biol Psychiatry. 2013 Jul 15;74(2):106-12
pubmed: 23312565
J Cereb Blood Flow Metab. 1993 Jul;13(4):668-75
pubmed: 8314919
Pharmacogenet Genomics. 2005 Jun;15(6):387-91
pubmed: 15900211
BMC Med Genomics. 2018 Jan 19;11(1):3
pubmed: 29351777
Biol Pharm Bull. 2012;35(11):1870-5
pubmed: 23123458
Curr Environ Health Rep. 2014 Mar 21;1:132-147
pubmed: 24860722
Hum Mol Genet. 2018 Oct 15;27(20):3498-3506
pubmed: 29945223
J Biol Chem. 2002 Mar 29;277(13):10795-803
pubmed: 11790780

Auteurs

Enrico D'Ambrosio (E)

Department of Psychosis Studies, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London SE5 8AF, UK; Psychiatric Neuroscience Group, Department of Basic Medical Sciences, Neuroscience and Sense Organs, University of Bari 'Aldo Moro', Bari, Italy.

Tarik Dahoun (T)

Psychiatric Imaging Group, MRC London Institute of Medical Sciences, Hammersmith Hospital, London W12 0NN, UK; Institute of Clinical Sciences, Faculty of Medicine, Imperial College London, Hammersmith Hospital, London, W12 0NN, UK; Department of Psychiatry, University of Oxford, Warneford Hospital, Oxford OX37 JX, UK.

Antonio F Pardiñas (AF)

MRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff, UK.

Mattia Veronese (M)

Centre for Neuroimaging Sciences, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London SE5 8AF, UK.

Michael A P Bloomfield (MAP)

Psychiatric Imaging Group, MRC London Institute of Medical Sciences, Hammersmith Hospital, London W12 0NN, UK; Translational Psychiatry, Research Department of Mental Health Neuroscience, Division of Psychiatry, University College London, Maple House, 149 Tottenham Court Road, London W1T 7NF, UK; Clinical Psychopharmacology Unit, Research Department of Clinical, Educational & Health Psychology, University College London, 1-19 Torrington Place, London WC1E 7HB, UK; NIHR University College London Hospitals Biomedical Research Centre, Maple House, 149 Tottenham Court Road, London W1T 7DN, UK.

Sameer Jauhar (S)

Department of Psychosis Studies, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London SE5 8AF, UK; South London and Maudsley NHS Trust, London, UK.

Ilaria Bonoldi (I)

Department of Psychosis Studies, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London SE5 8AF, UK; South London and Maudsley NHS Trust, London, UK.

Maria Rogdaki (M)

Department of Psychosis Studies, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London SE5 8AF, UK; Psychiatric Imaging Group, MRC London Institute of Medical Sciences, Hammersmith Hospital, London W12 0NN, UK.

Sean Froudist-Walsh (S)

Center for Neural Science, New York University, New York 10003, USA.

James T R Walters (JTR)

MRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff, UK.

Oliver D Howes (OD)

Department of Psychosis Studies, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London SE5 8AF, UK; Psychiatric Imaging Group, MRC London Institute of Medical Sciences, Hammersmith Hospital, London W12 0NN, UK; Institute of Clinical Sciences, Faculty of Medicine, Imperial College London, Hammersmith Hospital, London, W12 0NN, UK; South London and Maudsley NHS Trust, London, UK. Electronic address: oliver.howes@kcl.ac.uk.

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › The effect of a genetic variant at the...
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Chromosomes › Chromosomes de mammifère › Chromosomes humains › Chromosomes humains 6-12 et X › Chromosomes humains de la paire 10 › The effect of a genetic variant at the...
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