RESUMO
AIM: To search for genetic variants associated with premorbid personality in patients with schizophrenia. MATERIAL AND METHODS: The sample included 272 men diagnosed with schizophrenia or schizoaffective disorder. Patients were divided into 3 groups based on premorbid personality difficulties: mild (group 1, n=110), moderate (group 2, n=113), marked (group 3, n=49). The following polymorphisms were genotyped: 5-HTR2A (T102C), 5-HTTLPR, BDNF (Val66Met), CRP (-717A>G). RESULTS: A significant increase in the frequency of the CC (5-HTR2A T102C), LL (5-HTTLPR) and Met/Met (BDNF Val66Met) genotypes was identified in group 3 compared to group 1. Frequencies of CC and LL genotypes were significantly higher in group 2 compared to group 1 as well. The differences between group 2 and group 3 were found only for the Met/Met genotype. There were no between-group differences in the frequencies of CRP (-717A>G) genotypes. CONCLUSION: 5-HTR2A (T102C), 5-HTTLPR, BDNF (Val66Met) polymorphisms previously reported to modify schizophrenia course are also associated with premorbid personality in schizophrenic patients.
Assuntos
Fator Neurotrófico Derivado do Encéfalo , Serina Peptidase 2 de Requerimento de Alta Temperatura A , Personalidade , Transtornos Psicóticos , Esquizofrenia , Proteínas da Membrana Plasmática de Transporte de Serotonina , Fator Neurotrófico Derivado do Encéfalo/genética , Genótipo , Serina Peptidase 2 de Requerimento de Alta Temperatura A/genética , Humanos , Masculino , Personalidade/genética , Polimorfismo Genético , Receptor 5-HT2A de Serotonina , Esquizofrenia/genética , Proteínas da Membrana Plasmática de Transporte de Serotonina/genéticaRESUMO
AIM: To study the association between proinflammatory cytokine genes and depression. MATERIAL AND METHODS: IL-1B С-511T and TNF-a G-308A gene polymorphisms were studied in patients diagnosed with depression and age and sex-matched healthy controls. RESULTS AND CONCLUSION: The IL-1B С-511T and TNF-a G-308A polymorphisms were associated with depression; CC genotype (Ñ=0,001, OR=1.9 CI 1,3-2,7) and GG genotype (Ñ=0,001, OR=3,0 CI 1,8-4,9) were the risk factors. The results suggest that immune factors may play a role in the development of depression. The authors highlight the role of clinical polymorphism of depression that makes it difficult to form homogenous groups of patients and to select phenotypes for biological studies.
Assuntos
Depressão , Citocinas , Predisposição Genética para Doença , Genótipo , Humanos , Polimorfismo GenéticoRESUMO
AIM: The present research examines the association between two basic dimensions of personality and genes of inflammatory cytokines and mediators reported to be elevated in schizophrenia and affective disorders. Genes of interleukin-1B (IL-1B), interleukin-6 (IL-6), tumor necrosis factor alpha (TNF-α), C-reactive protein (CRP) and alpha 1-antitrypsin (A1AT) were studied. MATERIAL AND METHODS: A total of 639 healthy subjects, aged from 17 to 69 years, participated in the study. The following polymorphisms were genotyped: IL-1B С-511Т (rs16944) and С3954Т (rs1143634), IL-6 G-174C (rs1800795), TNF-α G-308A (rs1800629), CRP (rs279452), A1AT 374G/A (rs709932). Basic personality dimensions Extraversion and Neuroticism were assessed using the Eysenck Personality Inventory. RESULTS AND CONCLUSION: The levels of Extraversion and Neuroticism were not associated with IL-1B, IL-6, TNF-α G and CRP polymorphisms. The association between the A1AT 374G/A polymorphism and Extraversion (Ñ=0.036) was shown. There was a trend towards the association between the A1AT 374G/A polymorphism and Neuroticism (p=0,05) in women. Because this is the first study of the effect of IL-1B, IL-6, TNF-α and A1AT on personality dimensions, the results should be considered as preliminary and need to be replicated.
Assuntos
Inflamação/genética , Personalidade/genética , Adolescente , Adulto , Idoso , Alelos , Proteína C-Reativa/genética , Feminino , Genótipo , Humanos , Interleucina-6/genética , Masculino , Pessoa de Meia-Idade , Polimorfismo Genético , Fator de Necrose Tumoral alfa/genética , Adulto Jovem , alfa 1-Antitripsina/genéticaRESUMO
OBJECTIVE: To study the effectiveness of common neuropsychological tests for the verification of the diagnosis of cerebral ischemia (CE) and a role of polymorphisms in SERT, ApoE and BDNF genes in its development. MATERIAL AND METHODS: We studied 272 inpatients, aged from 37 to 70 years, with CE of the first stage (58 patients), CE of the second stage (121 patients) and CE of the third stage (93 patients). A set of neuropsychological tests, as well as biochemical and molecular-genetic studies were performed. RESULTS AND CONCLUSION: Reitan test was the most effective test for the diagnosis of cognitive impairment. The results of the Clock Drawing Test and MMSE were correlated with the disease severity but did not distinguish between the first and second stages of CE. Arterial hypertension and stenosing atherosclerosis of brain vessels were significant predictors of CE. SERT gene was a marker of the CE risk in men. The genotype SS was associated with the risk of CE with early age-at-onset. No association of ApoE and BDNF genes with CE was found.
Assuntos
Apolipoproteínas E/genética , Isquemia Encefálica/diagnóstico , Isquemia Encefálica/genética , Fator Neurotrófico Derivado do Encéfalo/genética , Proteínas da Membrana Plasmática de Transporte de Serotonina/genética , Adulto , Idoso , Doença Crônica , Feminino , Marcadores Genéticos , Humanos , Hipertensão/genética , Arteriosclerose Intracraniana/genética , Masculino , Pessoa de Meia-Idade , Testes Neuropsicológicos , Polimorfismo Genético , Fatores SexuaisRESUMO
Individual sensitivity to structural analogues of free fatty acids (FFA), some of which are endocrine destructors, resulting in hormonal metabolic disturbances, was studied using valproic acid (VA) as an example. The individual sensitivity was considered by the example of polymorphism in the PPAR@g2 gene. The homozygous genotype Pro12Pro of this gene was proved to be responsible for weight gain and development of insulin resistance during VA administration, which should be kept in mind when developing the safe levels of exposure to FFA-like substances.
Assuntos
Disruptores Endócrinos/efeitos adversos , Resistência à Insulina/genética , PPAR gama/genética , Polimorfismo de Nucleotídeo Único , Ácido Valproico/efeitos adversos , Aumento de Peso/efeitos dos fármacos , DNA/genética , Interpretação Estatística de Dados , Heterozigoto , Humanos , Insulina/sangue , Aumento de Peso/genéticaRESUMO
An association between a polymorphism of the SCN1 gene, a therapeutical target of lamotrigine, and an effective dose (a blood plasma concentration) of the drug in patients with epilepsy has been studied. Fifty patients with different forms of epilepsy have been genotyped for the SCN1 IVS5N+5 G>A polymorphism using polymerase chain reaction. The distribution of allelic variants was as follows: 23 patients had the mutant homozygous genotype (V/V), 20 - the heterozygous genotype Wt/V and 7 were homozygous for the wild allele (Wt/Wt). Mean lamotrigine doses were 85,7+/-7,4 mg/day for carriers of the Wt/Wt genotype, 113,75+/-7,13 mg/day for the Wt/V genotype and 142,4+/-15,43 mg/day for the V/V genotype. Peak plasma concentrations corresponded to effective doses were 0,6+/-0,065 mg/ml for Wt/Wt, 0,96+/-0,1 mg/ml for V/V and 0,72+/-0,1 mg/ml for Wt/V. The hypothesis on the association between the SCN1 IVS5N+5 G>A polymorphism and the effective dose (concentration) of lamotrigine was confirmed. The significantly higher frequency of the SCN1A mutation in the group of patients with epilepsy compared to the control group of Caucasians (45,5 and 21,3%, respectively) implies that this polymorphism may contribute to the pathogenesis of epilepsy.
