Family-based and case-control association studies of glutamate receptor GRIK3 Ser310Ala polymorphism in Polish patients and families with alcohol dependence.

The aim of this study was to evaluate the role of the GRIK3 functional polymorphism (Ser310Ala) in the pathogenesis of alcoholism. This polymorphism was investigated in two types of studies: (1) the association study in a whole group of alcoholics (116 patients fulfilling ICD-10 alcohol dependence (AD) criteria and 255 controls, Polish descent) and homogenous overlapping subgroups of patients with: a history of delirium tremens and/or alcohol seizures, early age of onset of alcoholism (AOO<26 years), a co-occurrence of dissocial personality disorder, a history of familial alcoholism; (2) the family-based study (using Transmission Disequilibrium Test (TDT) in 100 Polish families with alcohol dependence). The history of alcoholism was obtained using SSAGA (Polish version). GRIK3 functional polymorphism was determined using PCR. TDT revealed an adequate transmission of both alleles to the affected offspring in the whole group of alcohol families (29 x Ser, 24 x Ala; chi2=0.472; d.f.=1; p=0.492) and in the homogenous subgroups of families. No significant associations between any of the above mentioned alcohol phenotypes and Ser310 allele were observed (the whole AD group: p=0.66 AD with delirium and/or seizures: p=0.521; early onset AD: p=0.868; AD with familial history of alcoholism: p=0.798 and AD with dissocial personality disorder: p=0.618). These findings do not seem to support the hypothesis of the role of this polymorphism in the pathogenesis of alcoholism.

[Association of functional genes polymorphisms of key enzymes in the metabolism of biogenic amines with paranoid schizophrenia susceptibility and the influence of these polymorphisms on PANSS results in antipsychotic treatment]. / Zwiazki funkcjonalnych polimorfizmów genów kluczowych enzymów w metabolizmie amin biogennych z wystepowaniem schizofrenii paranoidalnej oraz ich wplyw na wyniki w PANSS pod wplywem leczenia przeciwpsychotycznego.

AIM: The genetic components of the schizophrenia susceptibility are calculated as being 50%. We evaluated the frequency of alleles and genotypes of COMT and MAO-A genes polymorphisms in patients with schizophrenia and in the healthy population. We searched for the associations between genotypes and PANSS results among patients in a three month antipsychotic therapy. METHOD: The study comprised 72 unrelated patients who met ICD-10 criteria for schizophrenia, and 187 unrelated healthy controls. The analysis of COMT and MAO-A genes polymorphisms were performed using the polymerase chain reaction technique (RFLP-restriction fragments length polymorphism and VNTR-variable number tandem repeats). The severity of psychopathological symptoms was measured by the PANSS (Positive and Negative Schizophrenia Scale). RESULTS: We did not find an association between the genotype of COMT and MAO-A genes polymorphisms and schizophrenia. We found statistically significant different allele distribution in MAO gene polymorphism: alleles with three tandem repeats in the promoter region were more frequent among females with schizophrenia. We did not find any association between the genotype of COMT and MAO-A genes polymorphisms and PANSS results in any time periods. Due to a small number of patients in this study the obtained results should be regarded as preliminary.

Polymorphisms in the serotonin transporter and monoamine oxidase A genes and their relationship to personality traits measured by the Temperament and Character Inventory and NEO Five-Factor Inventory in healthy volunteers.

The associations between 5-HTT-linked polymorphic region (5-HTT-LPR), monoamine oxidase A (MAOA)-LPR and the dimensions of temperament evaluated using the Temperament and Character Inventory (TCI) and NEO Five-Factor Inventory (NEO-FFI) were studied. One hundred healthy volunteers (without psychiatric disorders) were recruited to represent a cross-section of the population of Szczecin (Poland) in terms of sex, age and education. No associations between 5-HTT-LPR and the TCI harm avoidance dimension and between 5-HTT-LPR and the NEO-FFI neuroticism dimension were found. Males carrying the 3-VNTR MAOA gene variant (209 bp) had significantly lower values on the NEO-FFI openness dimension (p = 0.039) and obtained higher scores on the subdimension 3 of the TCI reward dependence (RD3), i.e. attachment vs. detachment (p = 0.005). Individuals carrying the 'short' variant of 5-HTT-LPR had lower values on the reward dependence dimension and the RD4 subdimension (dependence vs. independence) than individuals not carrying the 'short' variant (p = 0.039 and p = 0.011, respectively). Females carrying the 'short' variant had lower values on NS1 (exploratory excitability vs. stoic rigidity) and RD4 (dependence vs. independence) than those not carrying the variant (p = 0.042 and 0.043, respectively). The obtained level of significance with respect to the observed associations between 5-HTT-LPR and the reward dependence scales and subscales and between 5-HTT-LPR and the NS1 subscale are too weak for further interpretation. Our results do not confirm the hypothesis that there is a simple correlation between single gene polymorphisms and a personality trait measured by the TCI and NEO-FFI scales.

[Temperament and character of Polish women with anorexia and bulimia nervosa]. / Analiza wymiarów temperamentu i charakteru u doroslych kobiet z zaburzeniami odzywiania sie.

AIM: One of the factors influencing eating disorders are personality traits. The authors analyse temperament and character of healthy women. METHOD: The Cloninger Temperament and character Inventory was applied to 52 eating disordered patients (33 with anorexia nervosa and 19 with bulimia nervosa). The patients were divided into subgroups of restrictive type and bulimic types of anorexia, bulimia and bulimic episodes. RESULTS: In all the subgroups of the patients a higher result was obtained on the harm avoidance scale (HA), cooperativeness (C) and the self transcendence ST2 subscale. Lower results were seen in self-directedness (SD) in the SD2, SD3 and SD5 subscales. The subgroups differed in temperament. Bulimia patients noted a higher need for NS stimulation and a higher reward dependence (RD). Anorectic patients had higher results in the persistance scale (P), whilst the restrictive anorectic patients had lower results in the NS1 and RD3 subscales. CONCLUSIONS: The TCI Inventory is a useful tool, helping for a precise measurement of the difference in temperament of anorectic and bulimia patients as compared to their healthy peers.