S A Pakhomova

Publications (2)0.12 Total impact

• Article: Molecular genetic studies of early-onset schizophrenia.

  S A Pakhomova, G I Korovaitseva, M Yu Monchakovskaya, V.B. Vilyanov, L P Frolova, S V Kasparov, E V Kolesnichenko, V E Golimbet
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  ABSTRACT: Early-onset schizophrenia is characterized by a more severe course and unfavorable outcome. We report here our studies of a number of genes which may be involved in the pathogenesis of this type of schizophrenia: the genes for brain-derived neurotrophic factor (the Val66Met polymorphism), the serotonin transporter (5-HTTLPR), the type 2A serotonin receptor (T102C), and the D2 dopamine receptor (Taq1A). The study group consisted of 65 patients (age at onset was less than 15 years). The control group consisted of 111 healthy subjects aged 6-26 years (mean age 18.9 ± 6.7 years). Among the genes studied, the only one found to be associated with the disease was the Val66Met polymorphism. The frequency of the ValVal genotype was higher in the group of patients with schizophrenia (p = 0.03; odds ratio 2.1, confidence interval 1.1-4.0). These results support our previous observation of a relationship between this genotype and the continuous form of schizophrenia identified in studies of an independent group of patients without evaluation of age at onset, and lead to the conclusion that the ValVal genotype can be regarded as a marker for the more severe form of schizophrenia.
  Neuroscience and Behavioral Physiology 06/2011; 41(5):532-5.
• Article: [Molecular-genetic study of early-onset schizophrenia].

  S A Pakhomova, G I Korovaĭtseva, M Iu Monchakovskaia, V B Vil'ianov, L P Frolova, S V Kasparov, E V Kolesnichenko, V E Golimbet
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  ABSTRACT: Schizophrenia with early onset is a relatively rear form of the disease which characterized by severe chronic course and poor outcome. In the present paper, we studied several genes possibly involved in the pathogenesis of this form. These are genes for brain-derived neurotrophic factor (Val66Met polymorphism), serotonin transporter (5-HTTLPR), serotonin receptor type 2A (T102C) and dopamine receptor D2 (Taq1A). Sixty-five patients (age at onset before 15 years) and 111 healthy controls were included in the study. Out of all genes tested, the association was found only for the Val66Met BDNF polymorphism. Frequency of the ValVal genotype was higher in the group of patients (p=0.03; OR 2.1 CI 1.1-4.0) compared to the controls. These results were consistent with our previous study which was carried out on the sample of schizophrenic patients with later age of disease onset. In this study, the frequency of the ValVal genotype was higher only in the group of patients with chronic schizophrenia compared to the controls. It is concluded that the ValVal BDNF genotype may be considered as a marker of schizophrenia with more severe course.
  Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova / Ministerstvo zdravookhraneniia i meditsinskoi promyshlennosti Rossiiskoi Federatsii, Vserossiiskoe obshchestvo nevrologov [i] Vserossiiskoe obshchestvo psikhiatrov 01/2010; 110(2):66-9. · 0.12 Impact Factor