The mechanisms generating specific symptoms of schizophrenia remain unclear and genetic research makes it possible to explore these issues at a fundamental level. Taking into account the associations between the oxytocin system and social functions, which are apparently impaired in schizophrenia patients, we hypothesized that the oxytocin receptor gene (OXTR) might be associated with schizophrenia symptoms in both severity and responses to antipsychotics and did this exploratory positional study. A total of 2363 patients with schizophrenia (1181 males and 1182 females) included in our study were randomly allocated to seven antipsychotic treatment groups and received antipsychotic monotherapy for 6 weeks. Their blood DNA was genotyped for OXTR polymorphisms. Their symptom severity was assessed by Positive and Negative Syndrome Scale (PANSS), and the scores were transformed into seven factors (positive, disorganized, negative symptoms apathy/avolition, negative symptoms deficit of expression, hostility, anxiety and depression). Percentage changes in PANSS scores from baseline to week 6 were calculated to quantify antipsychotic responses. We found that OXTR polymorphisms were nominally associated with the severity of overall symptoms (rs237899, β = 1.669, p = 0.019), hostility symptoms (rs237899, β = 0.427, p = 0.044) and anxiety symptoms (rs13316193, β = −0.197, p = 0.038). As for treatment responses, OXTR polymorphisms were nominally associated with the improvement in negative symptoms apathy/avolition (rs2268490, β = 2.235, p = 0.0499). No association between severity or response to treatment and OXTR polymorphisms was found with statistical correction for multiplicity. Overall, our results highlighted the possibility of nominally significant associations of the OXTR gene with the severity and improvement in schizophrenia symptoms. Given the exploratory nature of this study, these associations are indicative of the role of the OXTR gene in the pathology of schizophrenia and may contribute to further elucidate the mechanism of specific symptoms of schizophrenia and to exploit antipsychotics more effective to specific symptoms.

产生精神分裂症特定症状的机制仍不清楚，基因研究使得从根本上探索这些问题成为可能。考虑到催产素系统和社会功能之间的关联在精神分裂症患者中明显受损，我们假设催产素受体基因（ OXTR ）可能与精神分裂症症状的严重程度和对抗精神病药物的反应有关，并进行了这项探索性位置研究。我们的研究共有 2363 名精神分裂症患者（1181 名男性和 1182 名女性）被随机分配到 7 个抗精神病药物治疗组，并接受为期 6 周的抗精神病药物单药治疗。他们的血液 DNA 进行了OXTR多态性基因分型。他们的症状严重程度通过阳性和阴性症状量表（PANSS）进行评估，并将分数转化为七个因子（阳性、混乱、阴性症状冷漠/厌恶、阴性症状表达缺陷、敌意、焦虑和抑郁）。计算 PANSS 评分从基线到第 6 周的百分比变化，以量化抗精神病药物反应。我们发现OXTR多态性名义上与总体症状（rs237899，β = 1.669， p = 0.019）、敌意症状（rs237899，β = 0.427， p = 0.044）和焦虑症状（rs13316193，β = -0.197， p = 0.038）。至于治疗反应， OXTR多态性名义上与阴性症状冷漠/无欲的改善相关（rs2268490，β = 2.235， p = 0.0499）。 通过多重性统计校正，未发现严重程度或治疗反应与OXTR多态性之间存在关联。总体而言，我们的结果强调了OXTR基因与精神分裂症症状的严重程度和改善名义上显着相关的可能性。鉴于本研究的探索性，这些关联表明了OXTR基因在精神分裂症病理学中的作用，并可能有助于进一步阐明精神分裂症特定症状的机制，并开发针对特定症状更有效的抗精神病药物。