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An intron 1 polymorphism in the cholecystokinin-A receptor gene associated with schizophrenia in males.

https://arctichealth.org/en/permalink/ahliterature148550
Source
Acta Psychiatr Scand. 2009 Oct;120(4):281-7
Publication Type
Article
Date
Oct-2009
Author
P. Koefoed
T V O Hansen
D P D Woldbye
T. Werge
O. Mors
T. Hansen
K D Jakobsen
M. Nordentoft
A. Wang
T G Bolwig
J F Rehfeld
Author Affiliation
Department of Neuroscience and Pharmacology, Laboratory for Neuropsychiatry, University of Copenhagen & Centre of Psychiatry, Rigshospitalet, Denmark. pkoefoed@sund.ku.dk
Source
Acta Psychiatr Scand. 2009 Oct;120(4):281-7
Date
Oct-2009
Language
English
Publication Type
Article
Keywords
Adult
Case-Control Studies
Chromosomes, Human, Pair 4 - genetics
Denmark - epidemiology
Diagnostic and Statistical Manual of Mental Disorders
Female
Gene Expression - genetics
Humans
International Classification of Diseases
Introns - genetics
Male
Polymorphism, Single Nucleotide - genetics
RNA Splice Sites - genetics
RNA, Messenger - genetics
Receptor, Cholecystokinin A - genetics
Schizophrenia - diagnosis - epidemiology - genetics
Severity of Illness Index
Sex Distribution
Abstract
To identify whether a genetic variation (rs1800857; IVS1-5T>C) in the neuropeptide cholecystokinin-A receptor (CCKAR) gene is a risk factor in the pathogenesis of schizophrenia.
The variation was analysed in a case-control design comprising 508 patients with schizophrenia and 1619 control subjects. A possible functional impact of this variant on CCKAR protein synthesis through alterations in splicing was analysed in an exon-trapping assay.
In males only, the risk variant, IVS1-5C, was associated with a significantly increased risk of schizophrenia. Carrying one risk allele was associated with an increased risk of 1.74 (Odds Ratio, OR) and homozygosity (CC) was associated with an OR of 3.19. The variation had no impact on protein synthesis of CCKAR.
This is the first report associating the CCKAR gene variant with schizophrenia specifically in men. Our study strengthens the conclusion that a CCKAR dysfunction could be involved in the aetiology of schizophrenia.
PubMed ID
19753663 View in PubMed
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Digital questionnaire platform in the Danish Blood Donor Study.

https://arctichealth.org/en/permalink/ahliterature280970
Source
Comput Methods Programs Biomed. 2016 Oct;135:101-4
Publication Type
Article
Date
Oct-2016
Author
K S Burgdorf
N. Felsted
S. Mikkelsen
M H Nielsen
L W Thørner
O B Pedersen
E. Sørensen
K R Nielsen
M T Bruun
T. Werge
C. Erikstrup
T. Hansen
H. Ullum
Source
Comput Methods Programs Biomed. 2016 Oct;135:101-4
Date
Oct-2016
Language
English
Publication Type
Article
Keywords
Blood Donors
Denmark
Female
Humans
Male
Surveys and Questionnaires
Abstract
The Danish Blood Donor Study (DBDS) is a prospective, population-based study and biobank. Since 2010, 100,000 Danish blood donors have been included in the study. Prior to July 2015 all participating donors had to complete a paper-based questionnaire. Here we describe the establishment of a digital tablet-based questionnaire platform implemented in blood bank sites across Denmark.
The digital questionnaire was developed using the open source survey software tool LimeSurvey. The participants accesses the questionnaire online with a standard SSL encrypted HTTP connection using their personal civil registration numbers. The questionnaire is placed at a front-end web server and a collection server retrieves the completed questionnaires. Data from blood samples, register data, genetic data and verification of signed informed consent are then transferred to and merged with the questionnaire data in the DBDS database.
The digital platform enables personalized questionnaires, presenting only questions relevant to the specific donor by hiding unneeded follow-up questions on screening question results. New versions of questionnaires are immediately available at all blood collection facilities when new projects are initiated.
The digital platform is a faster, cost-effective and more flexible solution to collect valid data from participating donors compared to paper-based questionnaires. The overall system can be used around the world by the use of Internet connection, but the level of security depends on the sensitivity of the data to be collected.
PubMed ID
27586483 View in PubMed
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No association between the -399 C > T polymorphism of the neuropeptide Y gene and schizophrenia, unipolar depression or panic disorder in a Danish population.

https://arctichealth.org/en/permalink/ahliterature76198
Source
Acta Psychiatr Scand. 2006 Jan;113(1):54-8
Publication Type
Article
Date
Jan-2006
Author
C. Lindberg
P. Koefoed
E S Hansen
T G Bolwig
J F Rehfeld
E. Mellerup
O S Jørgensen
L V Kessing
T. Werge
S. Haugbøl
A G Wang
D P D Woldbye
Author Affiliation
Laboratory of Neuropsychiatry, Department of Pharmacology, University of Copenhagen & Rigshospitalet University Hospital, Copenhagen, Denmark.
Source
Acta Psychiatr Scand. 2006 Jan;113(1):54-8
Date
Jan-2006
Language
English
Publication Type
Article
Keywords
Adult
Aged
Aged, 80 and over
Alleles
DNA Primers - genetics
Denmark - epidemiology
Depressive Disorder - epidemiology - ethnology - genetics
Female
Gene Frequency - genetics
Genotype
Humans
Incidence
Male
Middle Aged
Neuropeptide Y - genetics
Panic Disorder - epidemiology - ethnology - genetics
Polymerase Chain Reaction
Polymorphism, Genetic - genetics
Prevalence
Research Support, Non-U.S. Gov't
Schizophrenia - epidemiology - ethnology - genetics
Abstract
OBJECTIVE: A polymorphism in the promoter region of the NPY gene at position -399 C > T was recently reported to be associated with schizophrenia in a Japanese population and with treatment refractory unipolar depression in a Swedish population. The objective of this study was to investigate potential associations between the polymorphism and three psychiatric disorders in a Danish population. METHOD: We investigated the occurrence of the polymorphism in patients with schizophrenia (n = 291), unipolar depression (n = 256) and panic disorder (n = 142) compared with controls (n = 716). RESULTS: We detected the polymorphism -399 C > T at a frequency of 48% in controls. No significant differences were found between genotype or allele frequencies in controls vs. the patient groups. CONCLUSION: The lack of association between the -399 C > T polymorphism and schizophrenia, unipolar depression or panic disorder, respectively, suggests that the polymorphism is not involved in the etiology of these disorders in the Danish population.
PubMed ID
16390370 View in PubMed
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Polymorphisms in SREBF1 and SREBF2, two antipsychotic-activated transcription factors controlling cellular lipogenesis, are associated with schizophrenia in German and Scandinavian samples.

https://arctichealth.org/en/permalink/ahliterature154634
Source
Mol Psychiatry. 2010 May;15(5):463-72
Publication Type
Article
Date
May-2010
Author
S. Le Hellard
T W Mühleisen
S. Djurovic
J. Fernø
Z. Ouriaghi
M. Mattheisen
C. Vasilescu
M B Raeder
T. Hansen
J. Strohmaier
A. Georgi
F F Brockschmidt
I. Melle
I. Nenadic
H. Sauer
M. Rietschel
M M Nöthen
T. Werge
O A Andreassen
S. Cichon
V M Steen
Author Affiliation
Department of Clinical Medicine, Bergen Mental Health Research Center, University of Bergen, Bergen, Norway. stephanie.le.hellard@helse-bergen.no
Source
Mol Psychiatry. 2010 May;15(5):463-72
Date
May-2010
Language
English
Publication Type
Article
Keywords
Adult
Antipsychotic Agents - therapeutic use
Case-Control Studies
Chromosomes, Human, Pair 17 - genetics
Chromosomes, Human, Pair 22 - genetics
Female
Genetic Predisposition to Disease
Genome-Wide Association Study
Genotype
Germany
Humans
Lipogenesis - drug effects - genetics
Male
Middle Aged
Odds Ratio
Polymorphism, Single Nucleotide - genetics
Scandinavia
Schizophrenia - drug therapy - genetics
Sterol Regulatory Element Binding Protein 1 - genetics
Sterol Regulatory Element Binding Protein 2 - genetics
Abstract
Several studies have reported structural brain abnormalities, decreased myelination and oligodendrocyte dysfunction in schizophrenia. In the central nervous system, glia-derived de novo synthesized cholesterol is essential for both myelination and synaptogenesis. Previously, we demonstrated in glial cell lines that antipsychotic drugs induce the expression of genes involved in cholesterol and fatty acids biosynthesis through activation of the sterol regulatory element binding protein (SREBP) transcription factors, encoded by the sterol regulatory element binding transcription factor 1 (SREBF1) and sterol regulatory element binding transcription factor 2 (SREBF2) genes. Considering the importance of these factors in the lipid biosynthesis and their possible involvement in antipsychotic drug effects, we hypothesized that genetic variants of SREBF1 and/or SREBF2 could affect schizophrenia susceptibility. We therefore conducted a HapMap-based association study in a large German sample, and identified association between schizophrenia and five markers in SREBF1 and five markers in SREBF2. Follow-up studies in two independent samples of Danish and Norwegian origin (part of the Scandinavian collaboration of psychiatric etiology study, SCOPE) replicated the association for the five SREBF1 markers and for two markers in SREBF2. A combined analysis of all samples resulted in highly significant genotypic P-values of 9 x 10(-4) for SREBF1 (rs11868035, odd ration (OR)=1.26, 95% confidence interval (CI) (1.09-1.45)) and 4 x 10(-5) for SREBF2 (rs1057217, OR=1.39, 95% CI (1.19-1.63)). This finding strengthens the hypothesis that SREBP-controlled cholesterol biosynthesis is involved in the etiology of schizophrenia.
PubMed ID
18936756 View in PubMed
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