Interaction between HFE and haptoglobin polymorphisms and its relation with plasma glutathione levels in obese children.

Obesity among children has emerged as a serious public health problem. The growing prevalence of childhood obesity has led to the appearance of serious complications, including a chronic systemic inflammation associated with oxidative stress.  In the present study, we analysed the interaction between two genes related with iron metabolism - HFE and haptoglobin - and the plasmatic concentration of glutathione, as a way to evaluate the antioxidant response capacity in obesity. To achieve this, 118 obese children and 89 eutrophic children were recruited for the study. Results showed that although obese children present a significantly decreased tGSH levels, once we analysed separately children based on their haptoglobin phenotype, the decreased tGSH levels is significant only for the Hp 2 allele. Additionally, Hp 2.2 obese children carrying H63D polymorphism show significantly lower tGSH/GSSG values. Our results found an association of haptoglobin and HFE with oxidative stress in childhood obesity.

The role of 5-HTTLPR polymorphism in alcohol craving experience.

The way in which genetic risk mediates the development of craving in alcohol dependence is still relatively unknown. The authors sought to clarify the extent to which alcohol craving could be predicted by a relevant polymorphism in the promoter region of the gene encoding the 5-HT transporter (5-HTTLPR). A sample of 101 alcohol-dependent patients admitted for alcohol treatment was recruited for the study. At admission, blood samples were taken for DNA extraction and alcohol craving information was collected with a composite measure. The 5-HTT polymorphism was genotyped. Alcohol dependent patients who were homozygous for the long allele (LL) self-reported higher scores of craving when compared to patients that were homozygous for the short allele (SS). However, the results were not statistically significant. Also, no significant associations were observed between the 5-HTTLPR genotype and other drinking variables. No 5-HTTLPR genotype effects were observed on alcohol craving experience in a sample of alcohol-dependent outpatients.

Neuropsychological function and platelet monoamine oxidase activity levels in type I alcoholic patients.

AIMS: To explore neuropsychological function in two differentiated patterns of platelet monoamine oxidase B (MAO B) activity in alcoholic patients. METHODS: Neuropsychological examination and platelet MAO B activity extracted from blood were collected from 42 alcohol-dependent patients recruited in the alcoholism unit (NETER) of the Psychiatric Service of Santa Maria University Hospital. RESULTS: Alcoholics presented significantly low levels of platelet MAO B activity, when compared with control subjects; platelet MAO B activity in alcoholics classified as "under average subgroup" showed significant lower scores in the Raven Progressive Matrix and higher scores in hostility dimension, when compared with platelet MAO B activity in "above average subgroup." CONCLUSIONS: Results suggested platelet MAO B as a trait marker also to type I alcohol-dependent patients and the two observed associations between platelet MAO B activity with neurocognitive measures of executive functions (nonverbal reasoning) and psychopathological dimension such as hostility may support the notion about the effect of platelet MAO B activity in the further development of an impulsive cognitive style.

[Association of the functional serotonin transporter promoter polymorphism (5-HTTLPR) with externalizing and internalizing aggressivity and alcohol abuse]. / Associação entre o polimorfismo funcional do promotor ligado ao transportador da serotonina (5-HTTLPR): agressividade externalizada e internalizada e abuso do álcool.

Genetic factors of alcoholism influence the phenotypic heterogeneity of alcohol dependence, allowing the higher or lower expression of related aggressive behaviours. The pathogenesis of alcoholism and anti-social behaviour has been connected to serotonergic system dysfunction, given support to examine the association with 44-basepair insertion/deletion polymorphism of serotonin gene transporter (5-HTT). The study aims to assess the relationship between 5-HHTLPR polymorphism, aggressive behaviour and alcohol consumption pattern. There were recruited 97 alcohol dependent patients from the alcoholism unit (Etilo-Risco) of the Psychiatric Service of Santa Maria Hospital. Blood for DNA extraction and clinical and behavioural information was collected during the therapeutic program. Regarding 5-HTTLPR polymorphism prevalence in alcoholic population, 30.7% were homozygotic to l allele, 19.8% were homozygotic to s allele and 49.5% were heterozygotic l/s. Alcoholic patients carrying the l allele from 5-HTTLPR genotype showed significant lower scores of aggressivity during acute alcohol consumption, and alcoholic patients carrying the s allele showed significant higher scores of aggressivity (during acute alcohol consumption and abstinence), however, the results were not significant. The association between the functional nature of the s allele of 5-HTTLPR polymorphism with aggressive behaviour is in agreement with the general models of aggressivity that report low levels of central serotonergic activity related to impulsive and anti-social behaviours. The results demonstrate an association between 5-HTTLPR polymorphism and the auto and heteroaggressive behaviour in alcohol dependent population, particularly when aggressivity appears under acute alcohol consumption. During acute alcohol consumption stage, the presence of the l allele may act as a protective factor of aggressive behaviour risk, whereas the results tendency showed the s allele as susceptibility factor. Data suggests that the presence of s allele may confer a genetic vulnerability factor to the development of aggressive behaviour in alcohol dependent subjects, specially, in interaction with acute alcohol consumption stage.