研究背景：
精神分裂症病患有明顯的社會認知功能缺損，特別是情緒管理能力，雖然目前其分子生物機制仍有待研究，但已被指出部分經由血清素系統調控。過去研究發現，位於啟動子區域的血清素2A接受體基因(5-HT2AR)中的-1438 A/G基因多型性可調節血清素2A接受體的活動，且也被指出與情緒特質、憤怒及侵略相關行為有關，更是精神分裂症患者的候選基因之一。

研究目的：
本研究欲探討5-HT2AR基因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。情緒管理能力使用Mayer–Salovey–Caruso Emotional Intelligence Test (MSCEIT) Version 2.0 的D、H部分測量。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。另外所有病人都接受一般認知功能評估。

研究結果：
元線性迴歸分析結果發現，在控制了教育、正性症狀嚴重度及認知功能中的語文學習、字詞再認、視覺搜尋及簡單或複雜情境下的衝動控制指標後，A/G組之情緒管理表現優於G/G組（p = 0.032），而A/G組則與A/A組相較無異。進一步分析管理情緒的兩個分量表後發現，A/G組之情緒調控表現仍明顯優於G/G組 (p = 0.040)；而在與他人情緒往來表現上，A/G組亦有優於G/G組之傾向 (p = 0.051)。

研究結論：
本研究發現血清素2A接受體之–1438 A/G基因多型性在精神分裂症病患的社會認知功能中可能扮演重要角色，其中A/G組情緒調控表現明顯較G/G組佳，在與他人情緒往來表現亦有此趨勢。

Patients with schizophrenia exhibit impaired social cognitive functions, particularly emotion management. The molecular mechanism of the deficit remains unclear. However, the emotional management may be partially regulated by serotoninergic system as the –1438 A/G polymorphism in the promoter region of the 5-HT2A gene can modulate 5-HT2A activity and is linked to certain emotional traits and anger- and aggression-related behaviors. The current study aimed to investigate whether this 5-HT2A genetic variance is associated with social cognitive function in patients with schizophrenia. One hundred and fifteen Han Chinese patients with chronic schizophrenia were stabilized with optimal-dose antipsychotic treatment. All were genotyped for the –1438 A/G polymorphism and assessed with Positive and Negative Syndrome Scale (PANSS), Scale for the Assessment of Negative Symptoms (SANS), neurocognitive instruments, the managing emotion branch of Mayer-Salovey-Caruso Emotional Intelligence Test (MSCEIT), which is recommended by the National Institute of Mental Health as the measure of social cognition for schizophrenia. Multiple regression showed that patients with the A/G genotype performed better than those with G/G in the managing emotion branch of MSCEIT (p = 0.032) but did not differ from those with the A/A genotype. Regarding the two subtasks of the managing emotion branch, the A/G heterozygotes also excelled the G/G homozygotes in the emotion management subtask (p = 0.040) and possibly in emotional relations subtask (p = 0.051). The results suggest that 5-HT2A genetic variances may influence social cognitive function in patients with schizophrenia.

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