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汉族精神分裂症患者COMT基因多态性与临床症状及认知功能的关联

Association between COMT gene polymorphisms, clinical symptoms, and cognitive functions in Han Chinese patients with schizophrenia.

作者信息

Sun Zuoli, Zhang Zhengrong, Mao Peixian, Ma Yun, Li Wenbiao, Li Jun, Yang Xue, Ling Sihai, Tang Yilang

机构信息

Beijing Key Laboratory of Mental Disorders, The National Clinical Research Center for Mental Disorders, Beijing Anding Hospital, Capital Medical University.

State Key Laboratory of Cognitive Neuroscience and Learning, Beijing Normal University, Beijing, China.

出版信息

Psychiatr Genet. 2018 Jun;28(3):47-54. doi: 10.1097/YPG.0000000000000194.

Abstract

AIM

Catechol-O-methyltransferase (COMT) gene variants may be involved in the pathogenesis of psychotic symptoms, and associated especially with negative symptom in schizophrenia, but their roles in cognitive function and treatment response remain unclear. The aim of this study was to explore the association between COMT gene polymorphisms, clinical symptoms (including cognitive function), and treatment response to antipsychotic medications in patients with schizophrenia.

PATIENTS AND METHODS

A total of 200 Han Chinese inpatients with schizophrenia were recruited in accordance with Diagnostic and Statistical Manual of Mental Disorders, 4th ed. (DSM-IV). In total, 96 of them completed assessments at baseline and after 8 weeks of antipsychotic treatment. Clinical symptoms were assessed using the Positive And Negative Syndrome Scale (PANSS), and cognitive function was evaluated using the Verbal Fluency Test, Trail Making Test A-B, Stroop Color-Word Test, and Wisconsin Card Sorting Test. Two single nucleotide polymorphisms, rs4680 and rs165599, on the COMT gene were genotyped.

RESULTS

At baseline, we found no significant genotypic association between rs4680 and clinical symptoms or cognitive function. After 8 weeks of antipsychotic treatment, compared with patients with GG genotype, patients with AA/AG genotypes at rs4680 showed significantly higher scores on PANSS total, both at baseline and at the end of 8 weeks, especially in negative and general psychopathology symptoms. Patients with GG at rs165599 scored significantly higher on the Stroop test, suggesting better cognitive performance after 8 weeks of treatment. No significant association was found between rs165599 genotype and psychiatric symptoms as assessed by the PANSS and cognitive function tests at baseline.

CONCLUSION

Our findings suggest that the COMT gene polymorphisms may influence the response to antipsychotic treatment in Han Chinese patients with schizophrenia.

摘要

目的

儿茶酚-O-甲基转移酶(COMT)基因变异可能参与精神症状的发病机制,尤其与精神分裂症的阴性症状相关,但其在认知功能和治疗反应中的作用仍不明确。本研究旨在探讨COMT基因多态性与精神分裂症患者临床症状(包括认知功能)及抗精神病药物治疗反应之间的关联。

患者与方法

按照《精神疾病诊断与统计手册》第4版(DSM-IV)招募了200名汉族精神分裂症住院患者。其中共有96人在基线及抗精神病药物治疗8周后完成评估。使用阳性与阴性症状量表(PANSS)评估临床症状,使用言语流畅性测试、连线测验A-B、斯特鲁普色词测验和威斯康星卡片分类测验评估认知功能。对COMT基因上的两个单核苷酸多态性rs4680和rs165599进行基因分型。

结果

在基线时,我们发现rs4680与临床症状或认知功能之间无显著的基因型关联。抗精神病药物治疗8周后,与GG基因型患者相比,rs4680位点为AA/AG基因型的患者在基线及8周结束时的PANSS总分显著更高,尤其是在阴性和一般精神病理症状方面。rs165599位点为GG的患者在斯特鲁普测验中的得分显著更高,表明治疗8周后认知表现更好。在基线时,通过PANSS评估的精神症状和认知功能测试未发现rs165599基因型之间存在显著关联。

结论

我们的研究结果表明,COMT基因多态性可能影响汉族精神分裂症患者对抗精神病药物治疗的反应。

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