[Gene insertion and deletion polymorphism in the serotonin transporter gene and personality traits measured by MMPI]. / Insertsionno-deletsionnyi polimorfizm gena perenoschika serotonina i cherty lichnosti, izmeriaemye MMPI.

Polymorphisms of the serotonin transporter gene are known to be associated with some personality traits measured by means of various psychological inventories. In the present work we attempted to find an association between genetic variants of serotonin transporter (loci VNTR-17 and 5-HTTLPR) and psychological traits scored by the MMPI inventory in 125 mentally healthy donors. No statistically significant differences in personality traits were found between carriers of different VNTR-17 genotypes. At locus 5-HTTLPR, significant between-genotype differences were revealed on the Schizophrenia scale (F = 3.49; P = 0.034) and on the validity scale F (F = 3.24; P = 0.042). The ss genotype carriers had the lowest scores on these scales. The score on the Psychopathic Deviate scale was significantly lower in the carriers of the ss genotype than in the combined group of the carriers of genotypes ll and ls (t = 2.07; P = 0.041). The differences on the validity scale K between the carriers of the ll and ss genotypes were also statistically significant (t = 2.49; P = 0.015). These results suggest that polymorphism of the serotonin transporter gene may be associated with the expression of schizoid traits (namely, social introversion, internal tension, weird thoughts and actions) in mentally healthy individuals. In the context of social adaptation, the personality profile configuration and data of statistical analysis indicate that the carriers of the ss genotype are more inclined to observe social norms than the carriers of the ll and ls genotypes.

[Allele polymorphism of the serotonin transporter gene and clinical heterogeneity of depressive disorders]. / Allel'nyi polimorfizm gena perenoschika serotonina i klinicheskaia geterogennost' depressivnykh rasstroistv.

Depression disorders are a clinically heterogeneous disease group. Their development is to a substantial extent underlain by dysfunction of the serotonin system, in particular, disturbed serotonin transport. The heterogeneity of depressions is associated, among other factors, with the age at disease onset. Allele polymorphism of the serotonin transporter (5-HTT) gene was tested for association with age at disease onset, clinical signs, and anxiety-related traits of depression patients. A sample included 77 patients (mean age 61.2 +/- 8.8 years) with late-onset depression (LOD, mean age at onset 56.58 +/- 9.7 years) and 74 patients (mean age 31.0 +/- 11.8 years) with early-onset depression (EOD, mean age at onset 23.9 +/- 7.4 years). In genotype frequency distribution of two 5-HTT gene polymorphism, the LOD and EOD groups did not differ from each other (chi 2 = 0.33, P = 0.85 for VNTR-17; chi 2 = 3.33, P = 0.19 for HTTLPR) and from a control group (chi 2 = 0.34, P = 0.84 for VNTR-17; chi 2 = 2.1, P = 0.35 for HTTLPR). In either group, patients differing in VNTR-17 and HTTLPR genotypes did not differ in psychological traits and, in particular, in anxiety-related traits. In the case of the HTTLPR polymorphism, LOD patients with genotype ss tended to display less severe neuroticism (t = 2.03, P = 0.0507) and scored significantly less on the Hamilton depression scale (t = 2.19, P = 0.039). Thus, the 5-HTT gene polymorphisms do not affect the risk of depression but is possibly associated with specific clinical signs of the disease, at least in elderly patients.

[Serotonin transporter gene polymorphism in families with schizophrenia]. / Polimorfizm gena-perenoschika serotonina v otiagoshchennykh shizofreniei semi'iakh.

Recently association between VNTR-17 (12 copies, allel 12) and schizophrenia has been reported. Relations between allele polymorphism of serotonin transporter gene and schizophrenia in 71 Russian families with schizophrenia (n = 253) were studied. Genotyping was made by VNTR-17 and HTTLPR loci. Allele 10 was transmitted 25 times and allele 12 was transmitted 28 times. In the case of HTTLPR polymorphism allele I was transmitted 26 times and allele s was transmitted 19 times. These differences in transmission also were statistically insignificant (p = 0.69). Therefore, our findings do not support association between 5-HTT polymorphism and susceptibility to schizophrenia.

[Molecular genetic polymorphism of the genes of neurotransmitter systems in schizophrenics with early manifestation of the disease]. / Molekuliarno-geneticheskii polimorfizm genov neirotransmitternykh sistem u bol'nykh shizofreniei s rannei manifestatsiei zabolevaniia.

Molecular-genetic polymorphism of genes-candidates was investigated: the genes of serotonin receptor--type 2a (HTR2A), dopamine receptor gene--type 2, serotonin transporter (5HTTLPR). Thirty one schizophrenic patients whose age was 12.6 +/- 3.6 years at the onset of the disease and 208 patients whose age was 23.5 +/- 6.7 years at the onset of the disease were examined. The frequencies of HTTLPR and DRD2 genotypes differed insignificantly in both groups. The distribution of 5HTR2A genotypes in the schizophrenic group with an early manifestation of the disease differed from that with a later manifestation significantly (chi 2 = 6.27; df = 2; p = 0.044). The relative risk (odds ratios) was 7.9 with 95% significance interval 1.008-61.94; p = 0.045. The severity of the disease and a positive family history were also examined in A2A2 genotype carriers. A positive family history was found in 9 (52.9%) of the 17 schizophrenics with an early manifestation and only in 15 (21.1%) of 71 patients of the similar group with a later one. Assessment of the clinical symptoms revealed that the total scores by the negative symptomatology subscale (PANSS) was higher in the patients with an early manifestation than in those with later one; but these differences did not achieve the significance level. These and earlier findings lead to the conclusion that A2A2 genotype was more frequently observed in the patients with more pronounced negative symptoms and high hereditary burden, which suggests that the A2A2 genotype is associated with an early onset.

[Insertion-deletion polymorphism of the serotonin carrier gene and evaluation of neurotism as a temperament trait in patients with affective disorders and mentally healthy people]. / Insertsionno-deletsionnyi polimorfizm gena perenoschika serotonina i otsenka nevrotizma kak cherty temperamenta u bol'nykh s affektivnymi rasstroistvami i psikhicheski zdorovykh lichnostei.

Some studies associate the insertion/deletion polymorphism of the serotonin transporter (5-HTT) gene with anxiety-related personality traits in mentally healthy people, the short (s) allele being associated with a higher neuroticism score. The 5-HTT genotype and neuroticism score were established for 114 affective patients, 87 healthy relatives of endogenous psychosis patients, and for 156 mentally healthy people without familial psychiatric history. The effects of sex and age on the association between the two parameters was studied. Neuroticism proved to be not associated with the 5-HTT genotype.

[Genetic association between the apolipoprotein E (ApoE) gene alleles and various forms of Alzheimer's disease]. / Geneticheskaia assotsiatsiia mezhdu alleliami gena apolipoproteina E (APOE) i razlichnymi formami bolezni Al'tsgeimera.

Allele epsilon 4 of the apolipoprotein E (APOE) gene is associated with higher risk of Alzheimer's disease (AD) in many, though not all, ethnic groups. The APOE allele and genotype frequency distributions were studied in 207 AD patients without cerebrovascular disorders, 62 AD patients with cerebrovascular disorders (combined AD), and 206 control individuals (ethnic Russians from the Russian population). The frequency of allele epsilon 4 in patients with early-onset and late-onset AD was three times higher than in control individuals (p < 0.000001). Compared with control people, patients with cerebrovascular disorders displayed a twofold higher frequency of allele epsilon 4; the difference between the two groups was significant (p = 0.0019). Relative risk of AD in carriers of allele epsilon 4 was five times higher than in carriers of alleles epsilon 2 and epsilon 3 (p < 0.000001). Allele epsilon 2 had a protective effect with respect to AD onset until 65 years of age (p = 0.015). Thus, APOE allele epsilon 4 proved to be a universal factor of early-onset, late-onset, and combined AD in ethnic Russians from Russia.

[Polymorphism in the human serotonin transporter gene in endogenous psychoses]. / Polimorfizm v gene serotoninovogo transportera cheloveka pri éndogennykh psikhozakh.

Associations of the VNTR-17 and 5-HTTLPR polymorphisms of the serotonin transporter gene with affective disorders, including depression, have been found. These polymorphisms were analyzed in two groups of Russian probands: patients with endogenous psychoses and control individuals without mental disorders (423 and 277 persons, respectively). No associations were found between VNTR-17 genotypes or alleles and the diseases. However, the frequency of 10/10 (VNTR-17) homozygotes increased with age in both patients and healthy persons. The results of the analysis of the 5-HTTLPR polymorphism suggest an association of the short (s) allele of the 5-HTTLPR polymorphism with schizophrenia and schizoaffective psychoses, but not with affective disorders.

[Association analysis of polymorphism in angiotensin-converting enzyme gene in ischemic stroke]. / Analiz assotsiatsii polimorfizma v gene angiotenzinprevrashchaiushchego fermenta pri ishemicheskom insul'te.

Family and twins study demonstrated that genetic factors may be involved in stroke. Previously, insertion/deletion (I/D) Alu-polymorphism in the angiotensin-converting enzyme (ACE) gene has been suggested as a risk factor for some cardiovascular diseases. There fore, cardiovascular factors are well-known risk factors for ischemic stroke. We selected patients with ischemic stroke and with no evidence for arterial hypertension and carried out ACE polymorphism analysis. Association study of I/D polymorphism in group of these patients (52 individuals) and 80 control persons from the same population of Russian descent demonstrated no evidence for statistically significant differences in frequencies of I/D alleles or II/DD/ID genotypes between these groups. Thus, it suggests that ACE I/D polymorphism alone is not risk factor for stroke in non-hypertension patients. We cannot, however, exclude possible interaction between ACE-D/D genotype and sex.