•The patient with an SLC6A1 mutation, typically linked to disorders like epilepsy and autism, exhibited symptoms consistent with schizophrenia and bipolar disorder.•The patient's polygenic risk score ...was aligned with both schizophrenia and bipolar disorder, despite no family history of psychiatric disorders.•The study contributed to ongoing discussion of the importance of GABAergic processes in schizophrenia's etiology.
Serotonin receptor (5HTR2A) gene polymorphism has been reported to be associated with clinical phenotypes in schizophrenia. The current study attempted to investigate a relationship between 5HTR2A ...102T/C polymorphism and personality traits as well as clinical symptoms in patients with ICD-10 diagnoses of schizophrenia and affective disorders. 5HTR2A genotyping, clinical and psychological assessment were administered to 375 patients, 104 first-degree healthy relatives of the patients and 157 controls. In the patients an association was observed between the 2/2 5HTR2A genotype and scores on the Hypochondriasis scale (MMPI) (ANOVA, F = 4.56;
P = 0.011) and trait anxiety (F = 4.21;
P = 0.002). A significant difference between 1/1 and 2/2 genotypes has been also found for Neuroticism scores (EPI) (t = 2.18;
P = 0.0031). No significant differences by 5HTR2A genotype were observed in either the control or first-degree relativesˈ group for all scales studied. Positive, negative and psychopathological symptoms emerged higher in the 2/2 genotype patients compared to other genotype carriers. Therefore, the 2/2 genotype may contribute to produce the phenotype, with specific clinical and pathological features in common, regardless of nosologic heterogeneity of psychoses.
Summary
Many investigations suggest that abnormalities of the immune system are involved in the pathophysiology of schizophrenia. We recently found increased activity of leukocyte elastase (LE) and ...elevated levels of autoantibodies to neurospecific protein-nerve growth factor (Aab to NGF)-products of the innate and adaptive arms of the immune system in the serum of patients with acute stage schizophrenia. The aim of this study is to elucidate whether or not the changes of LE activity and Aab to NGF level are related to prominent features of schizophrenia. Patients (n=71) corresponding to ICD-10 criteria for relapseremitting schizophrenia were assessed by the Positive and Negative Syndrome Scale (PANSS). Patients with predominantly positive symptoms showed significantly elevated serum levels of Aab to NGF compared to patients with predominantly negative symptoms, who were more likely to exhibit the high LE activity. Moreover, progression of positive symptoms was coupled with gradual increase of Aab to NGF level and reduction of LE activity. Based on these findings we conclude that the high levels of Aab to NGF relate to a clinical picture characterised mainly by positive symptoms of schizophrenia, whereas high LE-activities relate to a clinical picture with mainly negative symptoms of schizophrenia.
Background and Objectives: Serotonin transporter (5-HTT) gene allelic variants were shown to be associated with Neuroticism and Harm Avoidance but the results were not replicated in other studies. ...The current investigation was undertaken in a further attempt to study the relationship between 5-HTT polymorphism and personality traits.
Subjects and Methods: To evaluate a spectrum of personality traits, MMPI was administered to a sample including patients with affective disorders (n=114), patients with schizophrenia spectrum illnesses (n=110) and psychiatrically well controls (n=124). All groups were genotyped for VNTR-17 and functional insertion-deletion (5-HTTLPR) polymorphisms.
Results: An association was found between 5-HTTLPR polymorphism and scores on three MMPI scales: Psychopathic deviance, Paranoia and Schizophrenia in patients with affective disorders and Schizophrenia in normal subjects. Both affected and control individuals with 'ss' genotype exhibited lower scores on these scales.
Conclusion: We demonstrated that functional deletion/insertion allelic variation associated with decreased expression of serotonin transporter ('s' allele or 'ss' genotype) may restrict expression of schizoid traits in normal subjects and patients with affective disorders.
The activity of leukocyte elastase (LE) and two markers for vascular endothelial cells (EC) dysfunction/lesion--von Willebrand factor (WF) and C-reactive protein (C-RP)--was determined in the blood ...plasma of 22 male patients, aged 23.7 +/- 5.5 years with attack-like schizophrenia (ALS) and 24 matched controls. A significant increase of WF, C-RP and LE was found in the patients compared to controls indicating EC dysfunction and/or lesion in ALS schizophrenia. Positive correlations between LE activity and WF concentrations as well as between WF and severity of clinical symptoms in ALS patients imply a vascular layer lesion of the blood-brain barrier.
Due to its role in dopamine system functioning in brain, angiotensin-1-converting enzyme (ACE) gene insertion-deletion (I/D) polymorphism is reportedly studied for association with major psychosis. ...The present study aimed at searching for I/D allele and genotype distribution in patients with major psychosis and healthy subjects and for an association between ACE gene polymorphism and clinical presentations of these disorders. One hundred and ninety-eight patients with schizophrenia (144) and affective disorders (54), 100 male, aged 36.3 +/- 12.8 years, and 247 controls, 87 male, aged 49.6 +/- 13.5 years, have been genotyped. No association was found between ACE gene polymorphism and major psychosis. In the group of males with schizophrenia, genotype distribution differed significantly from that in the male control group (chi2 = 6.24; p = 0.04), with frequencies of the DD genotype and the D allele being higher comparing to the II genotype and the I allele frequency (p = 0.04 and p = 0.01 respectively). It is suggested that in schizophrenia as well as in some other polygenic diseases ACE gene polymorphism might be rather considered as a modifying than a causal factor.
The changes of P300 parameters (lower amplitude and increased latency) are thought to be the most prominent phenomena of schizophrenia. A role of gene polymorphism in P300 generation was supported by ...several associative studies in psychiatrically well subjects and patients with mental disorders. We studied P300 parameters and the following polymorphisms: T102C for the serotonin receptor type 2A (5-HTR2A) gene, the 5-HTTLPR for the serotonin transporter gene, -809G/A, -616G/C N -52C/T SNPs in the promoter region of the dopamine D4 receptor (DRD4) gene and the Val158Met polymorphism of the catechol-O-methyltransferase (COMT) in 74 patients with schizophrenia and spectrum disorders and 71 their first-degree relatives. No association was found between serotonergic system genes and P300. The -809G/A DRD4 gene polymorphism was related to amplitude in all frontal leads (p=0,01) in patients. In relatives, an association was observed between -521C/T DRD4 variants and latency (p=0,005) as well as between the COMT gene polymorphism and P300 amplitude (p=0,004) at the central lead. Thus, the genes involved in dopaminergic system play a role in P300 generation both in patients with schizophrenia and spectrum disorders and their relatives.
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