Department of Psychiatry and Psychotherapy, Charité University Medicine Berlin, Campus Mitte , Berlin , Germany.
World J Biol Psychiatry. 2013 Sep;14(7):500-8. doi: 10.3109/15622975.2012.677547. Epub 2012 May 31.
Dysfunctions of the "social brain" belong to the core features of schizophrenia. The neurohormone oxytocin (OXT), mediated through its specific receptor (OXTR), is involved in the regulation of social behaviour and social cognition. Previous research has suggested a role of OXT system genes in disorders of social reciprocity. Preliminary evidence points to an association of peripheral OXT levels as well as OXT and OXTR gene polymorphisms with psychotic symptoms and treatment response in schizophrenia. This study aims to determine a possible contribution of OXT and OXTR genetic variations to schizophrenia susceptibility.
Using n = 406 individuals diagnosed with schizophrenia according to DSM-IV and n = 406 healthy controls matched for age and gender in a case-control design, two single nucleotide polymorphisms (SNPs) within the OXT gene (rs2740204, rs2740210) and four SNPs within the OXTR gene (rs53576, rs237880, rs237885, rs237902) that were previously investigated in other studies were genotyped.
Chi(2)-testing suggested significant associations of OXTR SNPs rs53576(A > G) (P = 0.008) and rs237885(T > G) (P = 0.025) with a diagnosis of schizophrenia. Post-hoc ANCOVA revealed significant associations of OXTR SNPs rs53576 with general psychopathology and rs237902 with negative symptom scores in schizophrenic patients.
Our findings support hypotheses about an involvement of oxytocinergic gene variants in schizophrenia vulnerability and warrant independent replication.
“社会脑”功能障碍属于精神分裂症的核心特征。神经激素催产素（OXT）通过其特定受体（OXTR）介导，参与调节社会行为和社会认知。先前的研究表明，OXT 系统基因在社会互惠障碍中起作用。初步证据表明，外周催产素水平以及 OXT 和 OXTR 基因多态性与精神分裂症的精神病症状和治疗反应有关。本研究旨在确定 OXT 和 OXTR 遗传变异对精神分裂症易感性的可能贡献。
采用病例对照设计，用 n = 406 名根据 DSM-IV 诊断为精神分裂症的个体和 n = 406 名年龄和性别匹配的健康对照者，对催产素基因内的两个单核苷酸多态性（SNPs）（rs2740204、rs2740210）和 OXTR 基因内的四个 SNPs（rs53576、rs237880、rs237885、rs237902）进行基因分型，这些 SNPs 先前在其他研究中进行了研究。
卡方检验提示 OXTR SNP rs53576(A > G)（P = 0.008）和 rs237885(T > G)（P = 0.025）与精神分裂症的诊断显著相关。事后协方差分析显示，OXTR SNP rs53576 与精神分裂症患者的一般精神病学症状显著相关，rs237902 与阴性症状评分显著相关。
我们的研究结果支持了关于催产素能基因变异与精神分裂症易感性有关的假说，并需要进一步独立验证。
