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No association of primary Sjögren's syndrome with Fc? receptor gene variants.

https://arctichealth.org/en/permalink/ahliterature115012
Source
Genes Immun. 2013 Jun;14(4):234-7
Publication Type
Article
Date
Jun-2013
Author
K. Haldorsen
S. Appel
S. Le Hellard
O. Bruland
J G Brun
R. Omdal
G. Kristjansdottir
E. Theander
C P D Fernandes
M. Kvarnström
P. Eriksson
L. Rönnblom
M W Herlenius
G. Nordmark
R. Jonsson
A I Bolstad
Author Affiliation
Broegelmann Research Laboratory, The Gade Institute, University of Bergen, Bergen, Norway. kahn@helse-bergen.no
Source
Genes Immun. 2013 Jun;14(4):234-7
Date
Jun-2013
Language
English
Publication Type
Article
Keywords
Adult
Aged
Case-Control Studies
Female
Gene Deletion
Genetic Association Studies
Humans
Male
Middle Aged
Norway
Polymorphism, Single Nucleotide
Receptors, IgG - genetics
Sjogren's Syndrome - genetics
Sweden
Abstract
The genetic background of primary Sjögren's syndrome (pSS) is partly shared with systemic lupus erythematosus (SLE). Immunoglobulin G Fc receptors are important for clearance of immune complexes. Fc? receptor variants and gene deletion have been found to confer SLE risk. In this study, four Fc? receptor single-nucleotide polymorphisms (SNPs) and one copy number variation (CNV) were studied. Swedish and Norwegian pSS patients (N=527) and controls (N=528) were genotyped for the Fc? receptor gene variant FCGR2A H131R (rs1801274) by the Illumina GoldenGate assay. FCGR3A F158V (rs396991) was analysed in 488 patients and 485 controls, FCGR3B rs447536 was analysed in 471 patients and 467 controls, and FCGR3B rs448740 was analysed in 478 cases and 455 controls, using TaqMan SNP genotyping assays. FCGR3B CNV was analysed in 124 patients and 139 controls using a TaqMan copy number assay. None of the SNPs showed any association with pSS. Also, no FCGR3B CNV association was detected. The lack of association of pSS with Fc? receptor gene variants indicates that defective immune complex clearance may not be as important in pSS pathogenesis as in SLE, and may point to important differences between SLE and pSS.
Notes
Comment In: Genes Immun. 2013 Dec;14(8):530-124108102
Comment In: Genes Immun. 2013 Dec;14(8):53224108103
PubMed ID
23552400 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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