Functional analysis of schizophrenia-associated gene based on a familial case who suffered from the comorbidity of major mental disorders and rare hereditary disease

我们分析了240名精神分裂症患者和240名年龄和性别匹配的健康对照者的HPS4变异与临床症状和认知功能的关系。HPS4变异与精神分裂症患者的执行功能和健康对照者的工作记忆显著相关。HPS4变异与阳性和阴性症状量表评分之间无显著关联。HPS4主要表达于小鼠内侧缰和海马CA1、CA3锥体细胞。本研究提示HPS4基因与精神分裂症患者的执行功能缺陷有关。

We analyzed the association of HPS4 variants with clinical symptoms and cognitive function in 240 patients with schizophrenia and 240 healthy control subjects who were group matched for age and sex. Variants of HPS4 were significantly associated with executive function in patients with schizophrenia and with working memory in healthy control subjects. There was no significant association between HPS4 variants and Positive and Negative Symptom Scale scores. HPS4 was mainly expressed in mice medial habenula and hippocampal CA1 and CA3 pyramidal cells. The present study suggested the involvement of HPS4 gene in the executive function deficits in patients with schizophrenia.