Polymorphism in the 5'-promoter region of serine racemase gene in schizophrenia.
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Case-Control Studies↗
Biomedical subjects
L I Abramova
Publications and source records attributed to L I Abramova.
[Acoustic evoked potentials, serotonin transporter gene polymorphism and some psychopathological and psychological features in patients with schizophrenia and their relatives].
Serotonin transporter gene is known to be implicated with various psychological and psychiatric phenotypes. The present study aimed at searching for relationship of the gene polymorphism 5-HTTLPR to personality traits and P300 wave in patients with schizophrenia (n = 71) and their non-psychotic relatives (n = 74). To reduce an influence of the P300 amplitude range, which may vary widely in population, subjects have been divided into 2 groups: with amplitude higher (group m+) and lower (group m-) than a mean sample value. Between-amplitude differences were highly significant (p < 0.0001) for all the leads. The groups were similar by age, sex ratio and emotional level measured with personality inventories. When compared by 5-HTTLPR genotype, mean P300 amplitude values were similar in the group m-. In the group m+, significant differences for this component were found between the II genotype and the ss genotype at frontal (p = 0.02) and central (p = 0.005) leads, with the ss genotype subjects having the lowest amplitude. Subjects with the ss genotype in this group as compared to those with the II genotype were also featured by higher anxiety- and depression-related personality traits in relatives and marked clinical symptoms related to anxiety and depression in patients. The fact that association between 5-HTTLPR polymorphism and with P300 amplitude as well as personality traits was found only in the group with higher amplitudes, but not in the group with lower amplitudes, may be partly explained by the assumption that these groups represent different phenotypes. Subjects with inherent lower amplitude are thought to have reduced ability of behavior self-regulation. In conclusion, 5-HTTLPR polymorphism seems to contribute to information processing related to P300 generation and to anxiety and depression traits in patients with schizophrenia and their relatives.
Adult↗
[Dopamine system genes interaction and neurocognitive traits in patients with schizophrenia, their relatives and healthy controls from general population].
To elucidate main effects of dopamine receptor D4 (DRD4) and cathecol-O-methyltransferase (COMT) genes as well as their interaction effect on neurocognitive traits, DRD4 gene polymorphisms (-809G/A, -521C/T) and the COMT gene Val158Met polymorphism, along with characteristics of verbal memory, executive functions and peculiarities of associative processes, have been studied in 150 patients with schizophrenia, 83 their relatives and 118 mentally healthy subjects without positive family history of psychosis. A main effect of -521C/T polymorphism and DRD4 (-521C/T).Vall58Met polymorphisms interaction were found for verbal fluency, carriers of the Val/Val+CC and the Met/Met+TT genotypes performing better on this task as compared to other genotypes. An interaction DRD4 (-521C/T).Val158Met effect on originality of speech associations was observed in the combined group of unaffected individuals (relatives and controls), with lower scores of the trait in those with the Met/Met+CC genotype. The COMT-DRD4 (-809G/A) interaction effect on working memory was demonstrated for patients and unaffected individuals, homozygotes for the Val and the G alleles having the best results and homozygotes for the Met and the A alleles--the worst ones. The data obtained suggest the relationship of DRD4 and COMT genes with different characteristics of executive functions but not with verbal memory.
Adult↗
[Insertion-deletion polymorphism of angiotensin-1-converting enzyme gene in patients with endogenic psychoses].
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.
Adult↗
[Dopamine receptor DRD4 gene polymorphism and its association with schizophrenia spectrum disorders and personality traits of patients].
A vast body of associative studies reported a role of highly polymorphic dopamine receptor DRD4 gene in regulation of emotional processes and development of mental disorders. The present study addresses allele, genotype and haplotype distribution of 3 polymorphic DRD4 markers (-809G/A, -616G/C N -521C/T) in Russian patients with schizophrenia spectrum disorders and their relation to the disease and personality traits. A sample included 151 patients with iCD-10 diagnosis of schizophrenia, schizoaffective psychosis and schizotypal personality disorders, 89 their first-degree non-psychotic relatives and 131 mentally healthy individuals. No differences in allele and genotype frequency was found between the patients and the controls. Transmission disiquilibrium test (TDT) did not reveal a preferential transmission of either allele from parents to proband. The 521C/T N -616G/C markers were linked to the disease when the EH program has been used in the analysis. Patients with the GG (-809G/A) and GG (-616G/C) genotypes had higher scores on the Hypomania scale (MMPI) comparing to the GA(-809G/A)+AA(-809G/A) and GC(-616G/C)+CC(-616G/C) genotypes but the association did not reach a level of significance (p = 0.06). The results confirmed the literature reports on the relation of the DRD4 gene to schizophrenia and personality traits related to social activity.
Adult↗
[A study of some genes related to serotoninergic and dopaminergic systems and auditory evoked-potentials (P300) in patients with schizophrenia and spectrum disorders and their first-degree relatives].
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.
Adolescent↗
Serotonin transporter polymorphism and depressive-related symptoms in schizophrenia.
A role for the serotonin transporter (5-HTT) gene polymorphism in mental illnesses and anxiety-traits has been implicated. The contribution of genetic factors in personality traits and the manifestation of specific symptoms in psychiatric illnesses have yet to be elucidated. Anxious-depressive symptoms are a significant component in a pattern of schizophrenic symptoms. This study focused on the relation between 5-HTT polymorphism and clinical presentations of schizophrenia, specifically those related to the affective spectrum. Using clinical and psychological analyses, we tested the genetic association between the 5-HTTLPR polymorphism (5-HTT gene-linked polymorphic region) and anxiety- and depressive-related symptoms emerged in schizophrenia. In 260 patients with an ICD-10 diagnosis of schizophrenia (broad definition), we studied the 5-HTTLPR genotype (insertion-deletion polymorphism), the Positive and Negative Syndrome Scale (PANSS), and self-rated inventories (EPI, MMPI, STAI) scores. Patients with the "ss" genotype (deletion variant) scored significantly higher on "Guilt feelings" and "Depression" items, as compared with those of the "ll" genotype (insertion variant) (P = 0.016, 0.039, respectively). The frequency of the "ss" genotype was reduced in patients with no depression or guilt feelings, or in those patients exhibiting questionable symptoms. In contrast, the "ss" genotype carriers prevailed among the patients with mild, moderate, or severe ratings of the symptoms. The scores on all anxiety- and depression-related traits, self-rated by the patients, did not significantly differ by genotype. Our finding may contribute to understanding of molecular genetic features underlying an appearance of psychopathological symptoms emerged in schizophrenia.
Adult↗
[Interleukin system in schizophrenics].
Interleukines (IL) levels, mononuclear phagocytes (MP) activity and proliferative T-lymphocytes activity were studied in 6 patients with paranoid (ICD-10 item F20.00) and 20 patients with shift-like (F20.01) types of schizophrenia. Significant (p < 0.05) decrease of MP activity, monocytes-stimulated IL-1 beta production (mostly pronounced in paranoid type) lymphocyte-stimulated IL-2 production (p < 0.05) and proliferate T-lymphocytes activity (p < 0.01) were characteristic of schizophrenia in use of low mitogen doses. A significant increase (p < 0.001) of IL-2 serum concentration was found only in shift-like type. The changes of IL-2 concentration are more frequent in younger patients, aged up to 30 years, with relatively long duration of illness and manifestation stage (over 5 years). An increase of serum IL-2 in the patients was not connected with the changes of soluble IL-2 receptors in the serum as it did not differ from the control values.
Adult↗
[Preventive efficacy of tianeptine in recurrent depression with frequent exacerbations].
The results of the studies of 4 Russian research centers are summarized. Tianeptine (coaxil) was used in the treatment of 55 patients with ICD-10 diagnosis of recurrent depressive disorder (F32.1), 50 patients have completely finished the treatment. Tianeptine was assigned in dosage of 12.5 mg 3 times daily (patients over 65 years old received 25.0 mg daily) during 12 months. The drug was shown to have a high preventive efficacy for the disorder. Sixty-one percent of patients were full-responders. Taken together with partial responders (13%), an improvement was observed in 74% patients. The drug demonstrated a well tolerability with a rare and mild expression of side-effects.
Adult↗
[Immunological indices in schizoaffective and affective psychoses].
Proliferative activity of peripheral blood lymphocytes has been studied in patients with schizoaffective (18) and affective (24) psychoses in 4 experimental variants: cultivation of blood lymphocytes isolated by centrifuging in the density gradient with fetal (1st variant) or autologic serum (2nd variant); cultivation of lymphocyte obtained in plasma sedimentation with fetal (3rd variant) and autologic serum (4th variant). A level of functional lymphocyte activity was significantly decreased in patients. The data obtained suggest that different mechanisms underlie this decrease. In schizoaffective psychosis, a disturbance of cell cooperative interaction in immune response was observed. In affective psychosis, the determining factors were a decrease of the ability of lymphocytes to respond to mytogenic stimulation and a presence of the factor inhibiting a functional activity of lymphoid cells in patient's blood. Besides, it was shown that in patients with schizoaffective psychosis, lymphocyte proliferative activity inversely correlates with the disease duration and in affective patients the direct correlation between these indices was detected.
Adult↗
[D3 dopamine receptor gene Ser9Gly polymorphism in Russian patients with schizophrenia].
Polymorphic marker Ser9Gly of dopamine receptor D3 gene is considered perspective for associative studies of schizophrenia. Allele and genotype frequency of this polymorphism were studied in different ethnic groups of schizophrenic patients as well as the attempts have been made to reveal an association with clinical presentations of the disease. However, the results are inconsistent. The present study aimed at investigating Ser9Gly DRD3 gene polymorphism in Russian sample of schizophrenic patients. One hundred and fifty patients with ICD-10 diagnosis of schizophrenia (broad definition), 69 male and 81 female, aged 34.8+/-13.87 years, age at disease onset 24.3+/-9 years, have been examined. Control group consisted of 150 healthy subjects without family history of schizophrenia, 60 male and 90 female, aged 32.7+/-13.5 years. No between-group differences have been found for Ser9Gly DRD3 allele and genotype frequencies. However, a frequency of homozygous genotype Gly/Gly was significantly higher in female patients, comparing to female controls (p=0.038 Yate's corrected, OR 9. CI 0.95% 1.0-79.5). A role of sex-dependent association between Ser9Gly DRD3 polymorphism and schizophrenia is discussed.
Adult↗
[Psychological mechanisms of communication disorders in schizophrenics and their relatives].
The study aimed at searching for mechanisms of communicative impairments in patients with schizophrenia and their relatives. To evaluate a contribution of attention and memory to communication efficacy and to ability for understanding mental states of others, 100 patients with schizophrenia and schizoaffective psychosis, 150 their healthy relatives and 145 controls have been studied. The results confirmed a presence of communicative deviations in the patients with schizophrenia and their relatives. In these groups, communication deficit was determined by disturbance of 1 out of 4 communication principles--the principle of information quantity. Attention and memory did not exert any significant influence on communication efficacy in the patients and their relatives. Distinct deterioration of fulfilling the tasks demanding mentalizing ability was found only in the patients. However, no correlation was revealed between this deterioration and communication peculiarities.
Adult↗
[A-1438-G serotonin receptor type 2A (5-HTR2A) gene polymorphism in patients in patients with schizophrenia].
A-1438-G 5-HTR2A gene polymorphism is known to be related to some clinical presentations of endogenous psychoses, in particular, of schizophrenia. The present study aim was to study association between clinical appearances of schizophrenia and A-1438-G allelic polymorphism. Alleles (A and G) and genotypes (AA, AG and GG) distribution did not significantly differ between patients and control groups. No association has been found between the genotypes and clinical characteristics of the patients, such as age at disease onset, age at psychosis manifestation, as well as positive, negative and general psychopathological symptoms severity measured by PANSS.
Adolescent↗
[Bioelectrical activity of the brain in parents of schizophrenics].
The peculiarities of brain electric activity in mentally normal parents of schizophrenics (52 subjects) as compared to the control group of mentally normal subjects without family history of manifest psychosis (22 subjects). In both groups, EEG spectral densities and auditory evoked potentials (AEP) characteristics were compared. The parents of schizophrenics appeared to differ from controls by decrease of N1 amplitude and prolongation of N2, P3 which was similar to that observed in patients with schizophrenia. The findings are discussed as evidence of heritability of deviations in cognitive processes.
Adult↗
5HTR2A gene polymorphism and personality traits in patients with major psychoses.
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 relatives 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.
Adult↗
[Auditory evoked potentials in patients with schizophrenia and affective disorders].
Eighteen patients with schizophrenia and 18 patients with affective disorders (depression) underwent regisTration of auditory event-related potentials (ERPs) recording in oddball paradigm. All the patients were in remission. In both groups of the patients, the N100 ERPs amplitudes to non-target stimuli were significantly smaller and N200 and P300 latencies were longer than in 18 normals. In the patient's group with affective disorders, prolongation of P200 and N100 ERPs latencies to target stimuli has been found. The group of patients with schizophrenia was characterized by P300 amplitude reduction. The results show stimuli processing decrease in patients with affective disorders, while in patients with schizophrenia a cognitive function disturbance was recorded.
Adolescent↗
[The changes of the function of lymphocytes natural killers in schizophrenics].
Cytotoxic activity and lymphocyte natural killers (NK) number as well as gamma-interferon (gamma-IFN) production were studied in patients with paranoid (22 patients) and progressive attack-like (39 patients) schizophrenia (47 male and 14 female patients aged 16-62 years). Compared to controls, a decrease of NK activity and a trend towards gamma-IFN production decrease were found. In the patients, NK lymphocytes number was not changed. Cytotoxic activity was reduced only in the male patients, a frequency of cases with lower activity level being the highest in those with more severe form of paranoid schizophrenia. A significant difference of both indices was detected between men and women. In the men, the longer was the disease duration, the higher was cytotoxic activity and lymphocyte number increase. It was shown in vitro that monocytes are not involved in mechanisms changing the level of lymphocyte cytotoxicity in the patients and immune modulator enkad stimulats cytotoxic activity in the male patients.
Adolescent↗
[Serotonin type 2a (5-HTR2A) receptor gene polymorphism and personality traits in patients with endogenous psychoses].
Genetic polymorphism of the serotonin receptor (5-HTR2A) gene has been reported to be associated with the expression of clinical signs characteristic of major psychoses, including schizophrenia and affective disorders. In this study, personality traits of patients with these diseases and the associations of these traits with 5-HTR2A allelic polymorphisms were studied. It was demonstrated that schizophrenic and affective patients with the 2/2 genotype of serotonin receptor had lower scores on the anxiety scale and on the anxiety-related hypochondriasis and neuroticism scales than subjects with the 1/1 and 1/2 genotypes.
Adolescent↗