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精神分裂症 1 号基因缺失与首发精神病患者的临床症状有关。

A Disrupted-in-Schizophrenia 1 Gene Variant is Associated with Clinical Symptomatology in Patients with First-Episode Psychosis.

机构信息

Department of Psychiatry, University Hospital Marques de Valdecilla-IFIMAV, School of Medicine, University of Cantabria, Santander, Spain. ; Centro de Investigacion Biomedica en Red de Salud Mental (CIBERSAM), Madrid, Spain.

Centro de Investigacion Biomedica en Red de Salud Mental (CIBERSAM), Madrid, Spain.

出版信息

Psychiatry Investig. 2014 Apr;11(2):186-91. doi: 10.4306/pi.2014.11.2.186. Epub 2014 Apr 11.

Abstract

OBJECTIVE

DISC1 gene is one of the main candidate genes for schizophrenia since it has been associated to the illness in several populations. Moreover, variations in several DISC1 polymorphisms, and in particular Ser704Cys SNP, have been associated in schizophrenic patients to structural and functional modifications in two brain areas (pre-frontal cortex and hippocampus) that play a central role in the genesis of psychotic symptoms. This study tested the association between Ser704Cys DISC1 polymorphism and the clinical onset of psychosis.

METHODS

Two hundred and thirteen Caucasian drug-naive patients experiencing a first episode of non-affective psychosis were genotyped for rs821616 (Ser704Cys) SNP of the DISC1 gene. The clinical severity of the illness was assessed using SAPS and SANS scales. Other clinical and socio-demographic variables were recorded to rule out possible confounding effects.

RESULTS

Patients homozygous for the Ser allele of the Ser704Cys DISC1 SNP had significantly (p<0.05) higher rates at the positive symptoms dimension (SAPS-SANS scales) and hallucinations item, compared to Cys carriers.

CONCLUSION

DISC1 gene variations may modulate the clinical severity of the psychosis at the onset of the disorder.

摘要

目的

DISC1 基因是精神分裂症的主要候选基因之一,因为它在多个群体中与该疾病有关。此外,DISC1 多态性的几个变体,特别是 Ser704Cys SNP,与两个在精神病症状产生中起核心作用的脑区(前额叶皮层和海马体)的结构和功能改变有关,在精神分裂症患者中已经相关。本研究测试了 Ser704Cys DISC1 多态性与精神病发病的临床关联。

方法

对 213 名首次发作非情感性精神病的、未经药物治疗的白种人患者进行了 DISC1 基因 rs821616(Ser704Cys)SNP 的基因分型。使用 SAPS 和 SANS 量表评估疾病的临床严重程度。记录其他临床和社会人口统计学变量以排除可能的混杂影响。

结果

与 Cys 携带者相比,DISC1 基因 Ser704Cys SNP 纯合 Ser 等位基因的患者在阳性症状维度(SAPS-SANS 量表)和幻觉项目上的发生率显著更高(p<0.05)。

结论

DISC1 基因变异可能调节疾病发病时精神病的临床严重程度。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5fcb/4023094/57b4aeedcc32/pi-11-186-g001.jpg

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