Existing data point to a link, within the general population, between polymorphic variants of the serotonin transporter gene (5-HTTLPR SLC6A4) and catechol-O-methyltransferase on the one hand and the processing of information related to emotional facial expressions on the other. Schizophrenia patients are characterized by a defi cit in the recognition of mimicked emotional expressions, which has adverse effects on their social adaptation. With the aim of seeking the molecular mechanisms of this defi cit, we have assessed the main and epistatic effects of these polymorphisms on the recognition of emotions among schizophrenia patients (n = 299) and healthy control subjects (n = 232). The 5-HTTLPR polymorphism showed a signifi cant relationship with the recognition of emotions by patients. Homozygotes for the long allele identifi ed facial emotions signifi cantly better than carriers of the short allele (F = 8.00, p = 0.005). Although the recognition of emotions in the patients group correlated with negative symptoms, verbal learning, and trait anxiety, these signs did not have signifi cant modifying infl uences on the association detected here. COMT was found to have no effect on the recognition of emotions either in normal subjects or in schizophrenia patients.
Целью работы была оценка вклада гаплотипов и полисредового риска (ПСР) в вариативность метилирования ДНК в локусах риска шизофрении. В периферической крови 70 пациентов методом одномолекулярного секвенирования Pacbio бисульфитно-конвертированной ДНК исследовали фрагменты внутри генов MIR137HR и CYP17A1 и вблизи SLC39A8. Из почти 1000 изученных цитозинов восемь были вариативно метилированы. Для семи из них обнаружено влияние генотипа. Дополнительно в одном случае найден эффект взаимодействия генотипа и ПСР и в одном - главный эффект ПСР. Таким образом, у больных в изученных участках вариативность метилирования преимущественно обусловлена структурой ДНК.
The study aimed to assess the contribution of haplotypes and polyenvironmental risk scores (PERS) to DNA methylation variability in schizophrenia index loci. In peripheral blood of 70 patients, fragments within the MIR137HR and CYP17A1 genes and near SLC39A8 were studied by Pacbio-based single-molecule real-time bisulfite sequencing. Of about 1000 cytosines, only eight were variably methylated. Genotypes influenced seven of them. Additionally, in one case an interaction effect of haplotype and PERS and in another case a main effect of PERS were found. Thus, in the studied schizophrenia loci, variable methylation is mainly due to DNA structure.
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