Association between 5q23.2-located polymorphism of CTXN3 gene
(Cortexin 3) and schizophrenia in European-Caucasian males;
implications for the aetiology of schizophrenia

J 2015

Association between 5q23.2-located polymorphism of CTXN3 gene (Cortexin 3) and schizophrenia in European-Caucasian males; implications for the aetiology of schizophrenia

ŠERÝ, Omar, Jan LOCHMAN, Jana POVOVÁ, Vladimír JANOUT, Jiří PLESNÍK et. al.

Basic information

Original name

Association between 5q23.2-located polymorphism of CTXN3 gene (Cortexin 3) and schizophrenia in European-Caucasian males; implications for the aetiology of schizophrenia

Authors

ŠERÝ, Omar (203 Czech Republic, guarantor, belonging to the institution), Jan LOCHMAN (203 Czech Republic, belonging to the institution), Jana POVOVÁ (203 Czech Republic), Vladimír JANOUT (203 Czech Republic), Jiří PLESNÍK (203 Czech Republic, belonging to the institution) and Vladimír BALCAR (36 Australia)

Edition

BEHAVIORAL AND BRAIN FUNCTIONS, LONDON, BIOMED CENTRAL LTD, 2015, 1744-9081

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

Genetics and molecular biology

Country of publisher

United Kingdom of Great Britain and Northern Ireland

Confidentiality degree

není předmětem státního či obchodního tajemství

Impact factor

Impact factor: 1.720

RIV identification code

RIV/00216224:14310/15:00086884

Organization unit

Faculty of Science

DOI

http://dx.doi.org/10.1186/s12993-015-0057-9

UT WoS

000351259900001

Keywords in English

DISC1; SLC12A2; NKCC1; GABAergic neurotransmission; Amyloid precursor protein (APP); Alzheimer’s disease

Abstract

V originále

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.

Citovat

ŠERÝ, Omar, Jan LOCHMAN, Jana POVOVÁ, Vladimír JANOUT, Jiří PLESNÍK and Vladimír BALCAR. Association between 5q23.2-located polymorphism of CTXN3 gene (Cortexin 3) and schizophrenia in European-Caucasian males; implications for the aetiology of schizophrenia. BEHAVIORAL AND BRAIN FUNCTIONS. LONDON: BIOMED CENTRAL LTD, 2015, vol. 11, MARCH, p. "nestrankovano", 7 pp. ISSN 1744-9081. Available from: https://dx.doi.org/10.1186/s12993-015-0057-9.

@article{1338051,
   author = {Šerý, Omar and Lochman, Jan and Povová, Jana and Janout, Vladimír and Plesník, Jiří and Balcar, Vladimír},
   article_location = {LONDON},
   article_number = {MARCH},
   doi = {http://dx.doi.org/10.1186/s12993-015-0057-9},
   keywords = {DISC1; SLC12A2; NKCC1; GABAergic neurotransmission; Amyloid precursor protein (APP); Alzheimer’s disease},
   language = {eng},
   issn = {1744-9081},
   journal = {BEHAVIORAL AND BRAIN FUNCTIONS},
   note = {Opraven obor publikace},
   title = {Association between 5q23.2-located polymorphism of CTXN3 gene (Cortexin 3) and schizophrenia in European-Caucasian males; implications for the aetiology of schizophrenia},
   volume = {11},
   year = {2015}
}

TY  - JOUR
ID  - 1338051
AU  - Šerý, Omar - Lochman, Jan - Povová, Jana - Janout, Vladimír - Plesník, Jiří - Balcar, Vladimír
PY  - 2015
TI  - Association between 5q23.2-located polymorphism of CTXN3 gene (Cortexin 3) and schizophrenia in European-Caucasian males; implications for the aetiology of schizophrenia
JF  - BEHAVIORAL AND BRAIN FUNCTIONS
VL  - 11
IS  - MARCH
SP  - "nestrankovano"
EP  - "nestrankovano"
PB  - BIOMED CENTRAL LTD
SN  - 17449081
N1  - Opraven obor publikace
KW  - DISC1
KW  - SLC12A2
KW  - NKCC1
KW  - GABAergic neurotransmission
KW  - Amyloid precursor protein (APP)
KW  - Alzheimer’s disease
N2  - 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.
ER  -

ŠERÝ, Omar, Jan LOCHMAN, Jana POVOVÁ, Vladimír JANOUT, Jiří PLESNÍK and Vladimír BALCAR. Association between 5q23.2-located polymorphism of CTXN3 gene (Cortexin 3) and schizophrenia in European-Caucasian males; implications for the aetiology of schizophrenia. \textit{BEHAVIORAL AND BRAIN FUNCTIONS}. LONDON: BIOMED CENTRAL LTD, 2015, vol.~11, MARCH, p.~''nestrankovano'', 7 pp. ISSN~1744-9081. Available from: https://dx.doi.org/10.1186/s12993-015-0057-9.

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