研究背景：
精神分裂症患者之社會認知表現有明顯的缺損，此表現也是患者的認知與社會功能的調節因子。過去研究發現，disrupted-in-schizophrenia (DISC1) Ser704Cys單核酸多型性與動物的社會行為有關，更是精神分裂症患者的候選基因之一，並且在患者的認知功能以及腦部變化方面扮演重要的角色。

研究目的：
本研究欲探討DISC1 Ser704Cys 單核酸多型性是否與精神分裂症患者之社會認知功能有關。

研究方法：
共收案115位精神分裂症住院病患。社會認知功能使用Mayer–Salovey–Caruso Emotional Intelligence Test (MSCEIT) Version 2.0 來進行測量。經由抽血及PCR取得基因多型性資料。症狀嚴重度由Positive and Negative Syndrome Scale (PANSS)及Scale for the Assessment of Negative Symptoms (SANS)測量。此外，所有病人皆需接受一般認知功能評估。

研究結果：
多元線性迴歸分析結果發現，在控制了年齡、發病年齡、抗精神病藥物類別，以及認知功能中與注意力相關之測驗表現後，Cys/Cys-DISC1組之情緒辨識表現優於Ser-DISC1組 (Ser/Ser-DISC1+Ser/Cys-DISC1)（p=0.016），但兩組在情緒調節表現上並無顯著差異。

研究結論：
本研究結果顯示DISC1 Ser704Cys 單核酸多型性在精神分裂症病患的情緒辨識能力方面可能扮演著重要的角色，其中Cys/Cys-DISC1組表現優於Ser-DISC1組，然而Ser/Ser-DISC1只有3 人，明顯少於Cys/Cys-DISC和Ser/Cys-DISC1，盼後續的研究能加大樣本數，以提高統計之效果量。

Patients with schizophrenia exhibit impaired social cognitive functions; however, the molecular mechanism of this deficit remains unclear. DISC1, a promising susceptibility gene of schizophrenia, is associated with social behaviors in rodents. Moreover, a robust relationship among a common nonconservative SNP (Ser704Cys) of DISC1 vs. cognitive functions and brain morphology had been reported. Based upon the findings, current study aimed to investigate the potential association between DISC1 genetic variances and social cognitions in patients with schizophrenia. One hundred and fifteen patients with chronic schizophrenia, who had been stabilized with antipsychotic treatment, were assessed with neurocognitive instruments, including the emotion perception and management components of Mayer-Salovey-Caruso Emotional Intelligence Test (MSCEIT) for social cognition, and genotyped for the DISC1 Ser704Cys SNP. We found that patients with the DISC1 Cys/Cys genotype had poorer emotion perception, but not emotion management, than the Ser-allele carriers (Ser/Ser and Cys/Ser). This finding suggests that genetic variation in DISC1 may contribute to the social cognitive deficit, particularly emotion perception, in patients with chronic schizophrenia.

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