RESUMO
A putatively functional tetranucleotide repeat polymorphism in the tyrosine hydroxylase gene (TH) has been investigated with regard to different aspects of psychopathology. We investigated whether reported associations of this TH polymorphism may reflect associations with common personality traits. Personality was assessed by the NEO Personality Inventory-Revised version (NEO PI-R), in 205 healthy Caucasian volunteers. Tendencies for higher scores in the neuroticism (N) facets, Angry hostility (P=0.008) and Vulnerability (P=0.021), were observed among carriers of one of the alleles (T8). Healthy women with the T6/T10 genotype had significantly higher scores (P=0.001) in the Deliberation and Dutifulness facets (P=0.031) (the Conscientiousness dimension, C) and lower scores (P=0.031) in the Feelings facet (the Openness dimension, O). We concluded that: (1) higher mean scores in the Neuroticism facets among T8 allele carriers are consistent with previous data and warrants further research; (2) the T6/T10 genotype may influence personality among women; (3) these data should be cautiously interpreted in the absence of corroborating data.
Assuntos
Repetições de Microssatélites/genética , Personalidade/genética , Polimorfismo Genético/genética , Tirosina 3-Mono-Oxigenase/genética , Adulto , Idoso , Alelos , Feminino , Expressão Gênica/fisiologia , Triagem de Portadores Genéticos , Humanos , Masculino , Pessoa de Meia-Idade , Inventário de Personalidade/estatística & dados numéricos , Psicometria , Valores de ReferênciaRESUMO
An association between schizophrenia and a rare perfect ten-repeat allele, K1p, of a tetranucleotide microsatellite polymorphism in the tyrosine hydroxylase gene has recently been reported. The rare allele was found only in schizophrenic patients. During treatment with antipsychotic drugs patients with the rare allele displayed lower plasma homovanillic acid (HVA) and 3-methoxy-4-hydroxyphenylglycol (MHPG) levels than those without. We examined Swedish schizophrenic patients (n = 117) and healthy control subjects (n = 76) for the same polymorphism. In contrast to the previous studies, the K1p frequency in patients (4 of 117) tended to be lower than among controls (9 of 76). With all six alleles (K1p, K1i, K2-5) considered there was a significant difference between schizophrenic patients and control subjects. There was no significant difference in HVA and MHPG levels in cerebrospinal fluid from a subset (n = 64) of control subjects with and without the rare allele. The discrepant results warrant further investigation of the tyrosine hydroxylase gene.
Assuntos
Alelos , Repetições de Microssatélites/genética , Esquizofrenia/genética , Tirosina 3-Mono-Oxigenase/genética , Regulação Enzimológica da Expressão Gênica/fisiologia , Frequência do Gene/genética , Ácido Homovanílico/líquido cefalorraquidiano , Humanos , Ácido Hidroxi-Indolacético/líquido cefalorraquidiano , Metoxi-Hidroxifenilglicol/líquido cefalorraquidiano , Polimorfismo Genético/genética , Valores de Referência , Reprodutibilidade dos Testes , Esquizofrenia/líquido cefalorraquidiano , Esquizofrenia/diagnósticoRESUMO
Two regions of the human prodynorphin gene, the exon 4-region coding for the opioid peptides and the putative promotor/exon 1-region were analyzed for possible presence of polymorphisms. No polymorphism was detected in the exon 4-region, whereas a GC/AT base-pair exchange was observed 301 base pairs upstream of the exon 1/intron A boundary. This polymorphic marker was examined in Scandinavian chronic alcoholics (n = 70) and control subjects (n = 55). Prodynorphin allelic distributions were not significantly different in alcoholic patients and control subjects. The results suggest that no major influence on alcoholism is exerted through genes associated with this prodynorphin allelic marker.
Assuntos
Alcoolismo/genética , Alelos , Encefalinas/genética , Precursores de Proteínas/genética , Adulto , Idoso , Composição de Bases/genética , Éxons/genética , Feminino , Marcadores Genéticos/genética , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo Genético , Regiões Promotoras Genéticas/genéticaRESUMO
Associations of polymorphic genetic markers at the tyrosine hydroxylase (TH) and dopamine D4 receptor (DRD4) loci were examined in Scandinavian chronic alcoholics (n = 72) and control subjects (n = 67). Patients were divided into subgroups with regard to the presence of parental alcoholism and age of onset. Neither the TH nor the DRD4 allele distributions were significantly different when alcoholic samples were compared with control subjects. However, a tendency to high prevalence for 1 of the 5 TH alleles assayed (TH-K3) was observed in a subsample of 44 alcoholics characterized by late onset when compared with control subjects (27.3% vs. 10.6%, p = 0.041). Results suggest that no major influence on alcoholism is exerted through genes associated with the DRD4 or TH allelic markers examined.
Assuntos
Alcoolismo/genética , Alelos , Marcadores Genéticos/genética , Receptores de Dopamina D2/genética , Tirosina 3-Mono-Oxigenase/genética , Adulto , Idoso , Alcoolismo/classificação , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo Genético , Receptores de Dopamina D4 , SuéciaRESUMO
Alterations in the dopamine system have been hypothesized as a predisposing factor in alcoholism. The presence of the TaqI A1 and B1 alleles adjacent to the dopamine D 2-receptor gene (DRD2) was studied in Scandinavian alcoholic inpatients (n = 74), alcoholics autopsied at a forensic clinic (n = 19) and controls (n = 81). There were no significant differences between controls and the alcoholics, but a tendency of increased DRD2 TaqI A1 or B1 allele frequencies in alcoholic groups selected for severity (i.e. severity according to DSM-III-R criteria, early onset or severe medical complications due to alcohol abuse) and decreased frequencies in the corresponding less severe alcoholic group. The present study does not yield evidence for the hypothesis of an association between the DRD2 TaqI A1 or B1 alleles and alcoholism.
