Asunto(s)
Trastorno Bipolar , Polimorfismo Genético , Humanos , Polimorfismo Genético/genética , Intrones/genética , Trastorno Bipolar/genética , Repeticiones de Minisatélite/genética , Frecuencia de los Genes , Genotipo , Alelos , Predisposición Genética a la Enfermedad , Óxido Nítrico Sintasa de Tipo III/genéticaRESUMEN
OBJECTIVE: To evaluate the relationship between patients' clinical parameters, especially clinical specifiers, and the intron 4 VNTR variant of the endothelial nitric oxide synthase (NOS3) gene in bipolar disorder (BD) patients. METHODS: A sample of 95 patients with BD and 95 healthy volunteers were included in the case-control study. The patients consecutively admitted to the outpatient psychiatry clinic for 6 months and were evaluated with some scales for clinical parameters. In addition, PCR was used to determine the NOS3 intron 4 VNTR variant. RESULTS: The NOS3 genotype and allele frequency distributions of rapid cycling BD patients were significantly different from non-rapid cycling BD patients and the control groups. Furthermore, NOS3 genotype and allele frequency distributions of treatment-resistant BD patients were significantly different from treatment-responsive BD patients and the control groups. While BD patients carrying the b/b genotype and b allele had a lower risk of rapid cycling and treatment resistance, having the b/a genotype in BD patients was at higher risk in terms of rapid cycling and treatment resistance. In addition, the number of hospitalizations and the Clinical Global Impression-Improvement Scale scores of the BD group with the b/b genotype were statistically lower than the BD group with b/a and a/a genotypes. CONCLUSIONS: We propose that the intron 4 VNTR variant of the NOS3 gene may be associated with rapid cycling and treatment resistance in Turkish patients diagnosed with BD.
Asunto(s)
Trastorno Bipolar , Polimorfismo Genético , Trastorno Bipolar/tratamiento farmacológico , Trastorno Bipolar/genética , Estudios de Casos y Controles , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Intrones/genética , Repeticiones de Minisatélite/genética , Óxido Nítrico Sintasa de Tipo III/genética , Polimorfismo Genético/genéticaRESUMEN
OBJECTIVES: To investigate the association between mannose-binding lectin 2 (MBL2) codon 54 polymorphism and clinical features of patients diagnosed with schizophrenia (SCZ) or bipolar disorder (BD). METHODS: One hundred and eighteen patients with SCZ, 100 patients with BD, and 100 healthy volunteers were included in the case-control study. The patients consecutively admitted to the outpatient clinic in December 2017-May 2018 and were evaluated with some scales for clinical parameters. Polymerase chain reaction and RFLP were used to determine MBL2 polymorphism in DNA material. RESULTS: The MBL2 gene polymorphism distributions in SCZ or BD patients were significantly different from the control group. The heterozygous genotype percentages were significantly higher in the control group than in the SCZ or BD patients (OR: 0.450; 95% Cl: 0.243-0.830; p=0.010; OR: 0.532; 95%Cl: 0.284-0.995; p=0.047, respectively), and there were statistically significant differences in the MBL2 polymorphism distributions between treatment-responsive SCZ or BD patients and treatment-resistant patients diagnosed with SCZ or BD. The heterozygous genotype percentages were also significantly higher in the treatment-responsive group than in the treatment-resistant group in SCZ or BD patients (OR: 7.857; 95% Cl: 1.006-61.363; p=0.023; OR: 8.782; 95% Cl: 1.114-69.197; p=0.016, respectively). CONCLUSION: The presence of a heterozygous MBL2 genotype seems to be favorable both in terms of the absence of SCZ and BD in the healthy population and treatment response for Turkish patients.
