Aims: The present study explored whether specific single-nucleotide polymorphisms in alcohol metabolic pathway are associated with alcohol dependence or alcohol-related psychopathological symptoms. Methods: Three groups of male unrelated subjects were included: 101 currently alcohol-dependent patients, 100 formerly alcohol-dependent subjects and 97 healthy controls. The following questionnaires were implemented: AUDIT, Zung Depression and Anxiety scale, Brief Social Phobia Scale, Yale-Brown Obsessive Compulsive Scale, Obsessive Compulsive Drinking Scale and Buss-Durkee Hostility Inventory. All the subjects were genotyped for CYP2E1 c.-1053C)T and CAT c.-262C)T. Results: Statistically significant differences in the distribution of genotypes and alleles for CAT c.-262C)T polymorphism were observed among the three investigated groups. We observed a higher frequency of CAT -262T allele in alcohol-dependent subjects (OR = 1.74, 95% CI = 1.164-2.610). Among currently dependent patients CAT -262T allele carriers had higher AUDIT scores (P = 0.023), while CYP2E1-1053T allele carriers had significantly higher YBOCS-obsession subscale scores (P = 0.005) and Zung Anxiety Scale scores (P = 0.011). Conclusions: Our findings suggest that the CAT c.-262C)T genetic polymorphism influences the susceptibility to alcohol dependence and severity of alcohol dependence, while CYP2E1 c.-1053C)T polymorphism influences the expression of obsessive-compulsive and anxiety symptoms.
COBISS.SI-ID: 31770841
This study investigated the associations between single nucleotide polymorphisms in the neurodevelopmental Disrupted In Schizophrenia 1 ( DISC1 ), neuregulin 1 ( NRG1 ), brain-derived neurotrophic factor ( BDNF )and NOTCH4 genes and the clinical symptoms and the occur- rence of treatment-resistant schizophrenia in the Slovenian population. We included 138 schizophrenia patients, divid- ed into treatment-responsive a nd treatment-resistant group and 94 healthy blood donors. All subjects were genotyped for eight polymorphisms ( DISC1 rs6675281, DISC1 rs821616, NRG1 rs3735781, NRG1 rs3735782, NRG1 rs10503929, NRG1 rs3924999, BDNF rs6265, NOTCH rs367398) and investigated for associations with clinical variables. NOTCH4 rs367398 AA/AG was significantly associated with worse Positive and Negative Syndrome Scale (PANSS) and Clinical Global Impression (CGI) score. NOTCH4 rs367398 was not statistically significant- ly associated with the occurrence of treatment-resistant schizophrenia after the correction for multiple testing. Our data indicate that NOTCH4 polymorphism can influ- ence clinical symptoms in Slovenian patients with schizophrenia
COBISS.SI-ID: 31770585