Wang Peirong, Cai Jun, Ni Jianliang, Zhang Jiangtao, Tang Wei, Zhang Chen
Department of Psychiatry, Tongde Hospital of Zhejiang Province, Hangzhou, Zhejiang.
Schizophrenia Program, Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, Shanghai.
Neuropsychiatr Dis Treat. 2016 Nov 4;12:2875-2883. doi: 10.2147/NDT.S118160. eCollection 2016.
Cognitive dysfunction has been recognized as a cardinal feature of schizophrenia. Elucidating the neurobiological substrates of cognitive dysfunction in schizophrenia would help identify the underlying mechanism of this disorder. The rs1064395 single nucleotide polymorphism, within the gene encoding neurocan (), is reported to be associated with schizophrenia in European populations and may influence brain structure in patients with schizophrenia.
In this study, we aimed to explore whether rs1064395 confers some risk for schizophrenia and cognitive dysfunction in Han Chinese. We recruited 681 patients with schizophrenia and 699 healthy subjects. Two hundred and fifty-four patients were evaluated according to Repeatable Battery for the Assessment of Neuropsychological Status (RBANS).
There were no significant differences in genotype or allele distributions of the rs1064395 polymorphism between the schizophrenia and control groups. Patients showed significantly poorer performance than controls on immediate memory, visuospatial skill, language, attention, delayed memory, and total RBANS score. Patients with the A/A or A/G genotype of rs1064395 had lower scores of immediate memory, visuospatial skill, attention, and total RBANS score than those with the G/G genotype. We performed an expression quantitative trait loci analysis and observed a significant association between rs1064395 and expression in the frontal (=0.0022, =0.022 after Bonferroni correction) and cerebellar cortex (=0.0032, =0.032 after Bonferroni correction).
Our findings indicate that this single nucleotide polymorphism may be a risk factor for cognitive dysfunction in patients with schizophrenia. Further investigations are warranted for validation purposes and to identify the precise mechanism by which rs1064395 influences cognitive performance in patients with schizophrenia.
认知功能障碍已被视为精神分裂症的主要特征。阐明精神分裂症认知功能障碍的神经生物学基础将有助于确定该疾病的潜在机制。据报道，编码神经粘蛋白（Neurocan）的基因内的rs1064395单核苷酸多态性与欧洲人群的精神分裂症相关，并且可能影响精神分裂症患者的脑结构。
在本研究中，我们旨在探讨rs1064395是否会给汉族人群的精神分裂症和认知功能障碍带来某些风险。我们招募了681名精神分裂症患者和699名健康受试者。根据可重复神经心理状态评估量表（RBANS）对254名患者进行了评估。
精神分裂症组与对照组之间rs1064395多态性的基因型或等位基因分布没有显著差异。患者在即时记忆、视觉空间技能、语言、注意力、延迟记忆和RBANS总分方面的表现明显比对照组差。rs1064395的A/A或A/G基因型患者在即时记忆、视觉空间技能、注意力和RBANS总分方面的得分低于G/G基因型患者。我们进行了表达定量性状位点分析，观察到rs1064395与额叶（Bonferroni校正后P = 0.0022，q = 0.022）和小脑皮质（Bonferroni校正后P = 0.0032，q = 0.032）中的Neurocan表达之间存在显著关联。
我们的研究结果表明，这种单核苷酸多态性可能是精神分裂症患者认知功能障碍的一个危险因素。为了进行验证并确定rs1064395影响精神分裂症患者认知表现的精确机制，有必要进行进一步的研究。
