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.
Activity of polymorphic N-acetyl transferase characterized by bimodality (fast and slow acetylators) in normal subjects was studied in 150 epileptic patients. The epileptic versus normal subjects had a significant predominance of slow acetylators. The data obtained suggest that slow acetylation is one of the possible factors predisposing to epilepsy and responsible for a more severe course of the disease. The results of the study suggest that determination of the activity of polymorphic N-acetyl transferase may serve as a prognostic criterion of epilepsy.
[Clinico-demographic characteristics and features of the social and occupational adaptation of schizophrenics in 3 population groups living in the northeastern region of the European portion of the USSR (clinico-epidemiologic study)].
The authors conducted a clinico-epidemiological study of schizophrenics among the indigenous population, including that living in isolated areas and newcomers, taking into consideration forms of the disease course and employing a uniform syndromal assessment of the mental state. The authors have established general pathogenetic regularities of the course and their relationship with the age and sex. Patients from the indigenous population, particularly of geographically isolated areas, showed a higher incidence of schizophrenia, a more severe clinical picture of the disease and a lower level of social and occupational adaptation as compared to the migrated population.
Discriminant and successive analyses of formalized data obtained on the basis of questionnaire response were carried out in 232 twin samples of the same sex to estimate a degree of their similarity. The data were taken from the Twin Register of the Institute of Medical Genetics and treated concerning three characters: 1) subjective estimation of the similarity; 2) distinguishing twins by other people; 3) the use of special marks. The variants of discriminantal functions allowing to divide twin zygosity into monozygotic and dizygotic groups have been obtained, the classification error being 4 to 6%. The tables with diagnostic coefficients for twin zygosity diagnosis constructed on the basis of successive analysis are presented.
A clinical/genealogical study of colorectal adenomas (CRA) and cancer (CRC), and multiple primary malignant tumors (MPMT) was performed. The CRA prevalence in the population was 4.7 +/- 1.4% (single CRA--6.3% and multiple CRA--3.0%). The frequencies of malignant adenomas, 0.7% CRC, and MPMT were 0.7, 0.17 +/- 0.07%, and 0.004 +/- 0.003%, respectively. The prevalence of cancer of the female reproductive organs was also estimated (cancer of uterine body, 0.2 +/- 0.1%; cancer of ovaries, 0.08 +/- 0.1%; cancer of uterine cervix, 0.55 +/- 0.1%; cancer of mammary gland 0.57 +/- 0.1%). The main parameters of the familial inheritance of adenomas, CRC, and MPMT were also studied in general and at various clinical variants of these pathologies. Among the first-degree relatives of patients with solitary and multiple adenomas, the adenoma frequencies were 5.9 +/- 0.6 and 3.7 +/- 0.5%, respectively. The CRC frequency among the first-degree relatives of patients with adenoma was 3.0 +/- 0.6% and the frequency of MPMT was 5.8 +/- 0.6%. On the basis of the data obtained on frequencies of malignant tumors in various groups of relatives, the following conclusions were made: (1) in families of each proband group, specific pathology was accumulated; (2) the familial frequency of malignant tumors increased with an increase in proliferative processes and the severity of a pathology in probands.
A component analysis of human neurodynamic and psychodynamic characters in the norm was carried out in 8 human populations characterized by different degrees of isolation and ethnic origin. An increase in phenotypic variability and a decrease in heritability with increasing complexity of organization of the characters under study were demonstrated for all these populations. The additive effect plays the major role in genetic determination of neurodynamic and psychodynamic characters studied. For a number of neurodynamic parameters the effect of intralocus dominance indicative of the oligogenic determination system was observed. Data in favour of real contribution of the factors linked to X-chromosome were obtained for simple sensomotor reactions.
The first attempt at using multivariate genetic analysis to study the neurodynamic and psychodynamic levels of individual organization in Daghestan isolates is described. The absence of close similarity between dendrograms of templates of phenotypical and genotypical correlations is explained by lower heritability of the parameters under study. Interpopulation differences revealed by the multivariate genetic analysis are the result of differences in the genetic and social structures of the populations.
The multifactorial nature of breast cancer was established based on population and family study, the contribution of genetic factors being 52% (premenopausal--62 and postmenopausal--39%). Genetic heterogeneity of different coefficients of inheritance of breast cancer with the portion of common genes was shown to be 53%. The analysis of breast cancer interaction with other malignant neoplasms revealed that the development of other malignant neoplasms was the result of the influence of partially common genes. On the basis of data obtained in this study, the tables of repeated risk for the relatives have been worked out which may be used for medico-genetic consultations.
The data on clinico-genealogy studies of 1046 probands with breast cancer and their relatives are presented. The nature of inheritance corresponded to the Mendelian model. As to other families, there is no strong evidence for the monogene model both with complete and incomplete penetrance of mutant homo- and heterozygotes. Penetrance of homozygotes was 7.9-30.5%, this being 2.0-7.3% for heterozygotes. The conclusion is drawn that it is necessary to consider the regularities of inheritance of breast cancer in the light of the multifactorial model.