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与精神分裂症紊乱症状相关的多巴胺受体D2丝氨酸/半胱氨酸311变体

Dopamine receptor D2 Ser/Cys311 variant associated with disorganized symptomatology of schizophrenia.

作者信息

Serretti A, Macciardi F, Smeraldi E

机构信息

Istituto Scientifico H. San Raffaele, Department of Neuroscience, University of Milano School of Medicine, Italy.

出版信息

Schizophr Res. 1998 Nov 30;34(3):207-10. doi: 10.1016/s0920-9964(98)00093-0.

Abstract

The dopamine D2 receptor gene has been proposed as a genetic risk factor for schizophrenia (Arinami et al., 1994). However, a number of replications failed to confirm the initial report. The finding of a stronger association considering schizophrenics with the absence of negative symptoms (Arinami et al., 1996) suggested that the influence of DRD2 variants should be analyzed more at the level of symptoms rather than syndromes. One hundred and four inpatients affected by schizophrenia (n = 99) and delusional disorder (n = 5) (DSM IV) were assessed at admission by the Operational Criteria for Psychotic Illness (OPCRIT) and were typed for DRD2 variants using polymerase chain reaction (PCR) techniques. Subjects with the S311C variant presented a higher score on the 'Disorganization' factor (P = 0.012). Consideration of possible stratification effects such as sex and age of onset did not reveal any deviation from the whole sample. In conclusion, our preliminary report suggests that the DRD2 S311C variant may be a liability factor for disorganized symptoms among schizophrenics or for a subtype of schizophrenia characterized by highly disorganized symptomatology.

摘要

多巴胺D2受体基因已被提出是精神分裂症的一个遗传风险因素(有波成美等人,1994年)。然而,多项重复研究未能证实最初的报告。一项针对无阴性症状的精神分裂症患者的更强关联研究结果(有波成美等人,1996年)表明,应更多地在症状层面而非综合征层面分析DRD2变异体的影响。104名患有精神分裂症(n = 99)和妄想障碍(n = 5)(《精神疾病诊断与统计手册》第四版)的住院患者在入院时通过精神病性疾病操作标准(OPCRIT)进行评估,并使用聚合酶链反应(PCR)技术对DRD2变异体进行分型。携带S311C变异体的受试者在“紊乱”因子上得分更高(P = 0.012)。考虑性别和发病年龄等可能的分层效应,未发现与整个样本有任何偏差。总之,我们的初步报告表明,DRD2 S311C变异体可能是精神分裂症患者中紊乱症状的一个风险因素,或为以高度紊乱症状为特征的精神分裂症亚型的一个风险因素。

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