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

Autor: Jan Lochman, Omar Šerý, Vladimir Janout, Jana Povová, Jiří Plesník, Vladimir J. Balcar
Jazyk: angličtina
Rok vydání: 2015
Předmět:
Male
Neurology
Behavioral Neuroscience
0302 clinical medicine
Gene Frequency
Polymorphism (computer science)
Risk Factors
NKCC1
Genetics
0303 health sciences
biology
Mental disease
General Medicine
Middle Aged
3. Good health
Alzheimer’s disease
Adult
medicine.medical_specialty
Genotype
Cognitive Neuroscience
Schizophrenia (object-oriented programming)
Nerve Tissue Proteins
behavioral disciplines and activities
Polymorphism
Single Nucleotide
Risk Assessment
White People
03 medical and health sciences
DISC1
mental disorders
medicine
Humans
GABAergic neurotransmission
Psychiatry
Association (psychology)
Amyloid precursor protein (APP)
Gene
Biological Psychiatry
Alleles
Genetic Association Studies
030304 developmental biology
business.industry
Research
Membrane Proteins
DNA
Etiology
biology.protein
Schizophrenia
business
SLC12A2
030217 neurology & neurosurgery
Zdroj: Behavioral and Brain Functions : BBF
ISSN: 1744-9081
Popis: 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.
Databáze: OpenAIRE
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