Association between 5q23.2-located polymorphism of CTXN3 gene (Cortexin 3) and schizophrenia in European-Caucasian males; implications for the aetiology of schizophrenia
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F67985904%3A_____%2F15%3A00443827" target="_blank" >RIV/67985904:_____/15:00443827 - isvavai.cz</a>
Alternative codes found
RIV/00216224:14310/15:00086884 RIV/61988987:17110/15:A1601ESY
Result on the web
<a href="http://dx.doi.org/10.1186/s12993-015-0057-9" target="_blank" >http://dx.doi.org/10.1186/s12993-015-0057-9</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1186/s12993-015-0057-9" target="_blank" >10.1186/s12993-015-0057-9</a>
Alternative languages
Result language
angličtina
Original language name
Association between 5q23.2-located polymorphism of CTXN3 gene (Cortexin 3) and schizophrenia in European-Caucasian males; implications for the aetiology of schizophrenia
Original language description
Background: The objective of the study was to examine several polymorphisms in DISC1 and CTNX3 genes as possible risk factors in schizophrenia. DISC1 (disrupted-in-schizophrenia 1) has been studied extensively in relation to mental disease while CTXN3, has only recently emerged as a potential "candidate" gene in schizophrenia. CTXN3 resides in a genomic region (5q21-34) known to be associated with schizophrenia and encodes a protein cortexin 3 which is highly enriched in brain. Methods: We used ethnically homogeneous samples of 175 male patients and 184 male control subjects. All patients were interviewed by two similarly qualified psychiatrists. Controls were interviewed by one of the authors (O.S.). Genotyping was performed, following amplification by polymerase chain reaction (PCR), using fragment analysis in a standard commercial setting (Applied Biosystems, USA). Results: We have found a statistically significant association between rs6595788 polymorphism of CTXN3 gene and the risk of schizophrenia; the presence of AG genotype increased the risk 1.5-fold. Polymorphisms in DISC1 gene showed only marginally statistically significant association with schizophrenia (rs17817356) or no association whatsoever (rs821597 and rs980989) while two polymorphisms (rs9661837 and rs3737597) were found to be only slightly polymorphic in the samples. Conclusion: Evidence available in the literature suggests that altered expression of cortexin 3, either alone, or in parallel with changes in DISC1, could subtly perturb GABAergic neurotransmission and/or metabolism of amyloid precursor protein (APP) in developing brain, thus potentially exposing the affected individual to an increased risk of schizophrenia later in life.
Czech name
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
ED - Physiology
OECD FORD branch
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Result continuities
Project
<a href="/en/project/NT14504" target="_blank" >NT14504: Epidemiology and genetics of schizophrenia</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2015
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Behavioral and Brain Functions
ISSN
1744-9081
e-ISSN
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Volume of the periodical
11
Issue of the periodical within the volume
10
Country of publishing house
GB - UNITED KINGDOM
Number of pages
7
Pages from-to
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UT code for WoS article
000351259900001
EID of the result in the Scopus database
2-s2.0-84928242385