Source:http://linkedlifedata.com/resource/pubmed/id/12555239
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
1
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| pubmed:dateCreated |
2003-1-29
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| pubmed:abstractText |
Panic disorder is an anxiety disorder with an estimated heritability of 48%. Variation in the gene of the nuclear transcription factor "cAMP-responsive element modulator" (CREM) might contribute to its pathogenesis. CREM knock-out mice exhibit significantly less anxiety behavior than wild-type mice and the alternative CREM gene product "inducible cAMP early repressor" (ICER) plays a pivotal role in the hypothalamo-pituitary-adrenal (HPA) axis, which is disturbed in panic disorder. We characterized the genomic organization of the human CREM gene and performed a systematic mutation screening by means of single stranded conformational analysis (SSCA) in a sample of 40 German patients with panic disorder (DSM-III-R). Four novel single nucleotide polymorphisms in CREM promoters P 1 and P 4, one trinucleotide (ATT)-repeat polymorphism in CREM promoter P 2-generating the ICER isoform-and a rare amino acid substitution in CREM exon glut 2 were identified. Association analysis in an extended sample of German patients (n = 88) revealed a significant excess of the shorter CREM P 2 promoter eight-repeat trinucleotide allele and of genotypes containing the eight-repeat trinucleotide allele in panic disorder (P = 0.02), in particular in panic disorder without agoraphobia (P = 0.001). A replication study in independent Italian (n = 76) and Spanish (n = 62) samples, however, failed to confirm this observation. This suggests that the CREM P 2 promoter trinucleotide polymorphism is not a major susceptibility factor in the pathogenesis of panic disorder. Functional analysis of the observed CREM P 2 promoter polymorphism as well as studies in independent panic disorder samples are necessary.
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| pubmed:language |
eng
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| pubmed:journal | |
| pubmed:citationSubset |
IM
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| pubmed:chemical | |
| pubmed:status |
MEDLINE
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| pubmed:month |
Feb
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| pubmed:issn |
1552-4841
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| pubmed:author |
pubmed-author:ArmengolLL,
pubmed-author:AroltVV,
pubmed-author:BellodiLL,
pubmed-author:CatalanoMM,
pubmed-author:DeckertJJ,
pubmed-author:DiBellaDD,
pubmed-author:DomschkeKK,
pubmed-author:EstivillXX,
pubmed-author:FrankePP,
pubmed-author:FritzeJJ,
pubmed-author:GarritsenH SHS,
pubmed-author:GratacosMM,
pubmed-author:KuhlenbäumerGG,
pubmed-author:LorenzoII,
pubmed-author:MaierWW,
pubmed-author:Martin-SantosRR,
pubmed-author:NöthenM MMM,
pubmed-author:PerezGG,
pubmed-author:RingelsteinE BEB,
pubmed-author:SandPP,
pubmed-author:SchirmacherAA,
pubmed-author:SibrowskiWW,
pubmed-author:StögbauerFF
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| pubmed:copyrightInfo |
Copyright 2003 Wiley-Liss, Inc.
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| pubmed:issnType |
Print
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| pubmed:volume |
117B
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| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
70-8
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| pubmed:dateRevised |
2008-11-21
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| pubmed:meshHeading |
pubmed-meshheading:12555239-Agoraphobia,
pubmed-meshheading:12555239-Case-Control Studies,
pubmed-meshheading:12555239-Cyclic AMP Response Element Modulator,
pubmed-meshheading:12555239-DNA Mutational Analysis,
pubmed-meshheading:12555239-DNA-Binding Proteins,
pubmed-meshheading:12555239-Exons,
pubmed-meshheading:12555239-Female,
pubmed-meshheading:12555239-Gene Frequency,
pubmed-meshheading:12555239-Genome,
pubmed-meshheading:12555239-Genotype,
pubmed-meshheading:12555239-Germany,
pubmed-meshheading:12555239-Humans,
pubmed-meshheading:12555239-Male,
pubmed-meshheading:12555239-Panic Disorder,
pubmed-meshheading:12555239-Polymorphism, Genetic,
pubmed-meshheading:12555239-Promoter Regions, Genetic,
pubmed-meshheading:12555239-Repressor Proteins,
pubmed-meshheading:12555239-Sex Factors,
pubmed-meshheading:12555239-Transcription Factors
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| pubmed:year |
2003
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| pubmed:articleTitle |
Human nuclear transcription factor gene CREM: genomic organization, mutation screening, and association analysis in panic disorder.
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| pubmed:affiliation |
Department of Psychiatry, University of Münster, Münster, Germany.
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| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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