Association of the Synapse-Associated Protein 97 (SAP97) Gene Polymorphism With Neurocognitive Function in Schizophrenic Patients.

Association of the Synapse-Associated Protein 97 (SAP97) Gene Polymorphism With Neurocognitive Function in Schizophrenic Patients.
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突触相关蛋白 97 (SAP97) 基因多态性与精神分裂症患者神经认知功能的关联

DOI:
10.3389/fpsyt.2018.00458
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发表时间:
2018
影响因子:
4.7
通讯作者:
Li K
Li K
中科院分区:
医学3区
文献类型:
--
作者:
Xu X;Liang C;Lv D;Yin J;Luo X;Fu J;Yan H;Zhou X;Dai Z;Zhu D;Xiong S;Lin Z;Lin J;Zhao B;Li Y;Wang Y;Ma G;Li K

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SAP 97基因位于精神分裂症易感基因座3q 29,它编码与N-甲基-D-天冬氨酸(NMDA)受体相互作用的突触支架蛋白,推测NMDA受体在精神分裂症中失调。在这项研究中,我们在SAP 97基因的单核苷酸多态性(SNP)(rs3915512)在1114例精神分裂症患者和1036名健康匹配的对照组在中国汉族人群通过改进的多重连接检测反应(imLDR)技术进行基因分型。然后,我们分析了该SNP与患者临床症状和神经认知功能的关系。我们的研究结果表明,有没有在患者和对照组之间的rs3915512多态性的基因型和等位基因频率的显着差异。然而,具有rs3915512多态性TT基因型的患者比具有A等位基因的受试者具有更高的神经认知功能评分(列表学习评分、符号编码评分、类别实例评分和受控口头单词联想测试评分)(P分别为4.72 × 10−5、0.027、0.027、0.013)。我们的数据首次提示SAP 97 rs3915512多态性可能影响精神分裂症患者的神经认知功能。
The SAP97 gene is located in the schizophrenia susceptibility locus 3q29, and it encodes the synaptic scaffolding protein that interacts with the N-methyl-D-aspartate (NMDA) receptor, which is presumed to be dysregulated in schizophrenia. In this study, we genotyped a single-nucleotide polymorphism (SNP) (rs3915512) in the SAP97 gene in 1114 patients with schizophrenia and 1036 healthy-matched controls in a Han Chinese population through the improved multiplex ligation detection reaction (imLDR) technique. Then, we analyzed the association between this SNP and the patients' clinical symptoms and neurocognitive function. Our results showed that there were no significant differences in the genotype and allele frequencies between the patients and the controls for the rs3915512 polymorphism. However, patients with the rs3915512 polymorphism TT genotype had higher neurocognitive function scores (list learning scores, symbol coding scores, category instances scores and controlled oral word association test scores) than the subjects with the A allele (P = 4.72 × 10−5, 0.027, 0.027, 0.013, respectively). Our data are the first to suggest that the SAP97 rs3915512 polymorphism may affect neurocognitive function in patients with schizophrenia.
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