Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
Transl Psychiatry. 2012 May 8;2(5):e112. doi: 10.1038/tp.2012.39.
TCF4 is involved in neurodevelopment, and intergenic and intronic variants in or close to the TCF4 gene have been associated with susceptibility to schizophrenia. However, the functional role of TCF4 at the level of gene expression and relationship to severity of core psychotic phenotypes are not known. TCF4 mRNA expression level in peripheral blood was determined in a large sample of patients with psychosis spectrum disorders (n = 596) and healthy controls (n = 385). The previously identified TCF4 risk variants (rs12966547 (G), rs9960767 (C), rs4309482 (A), rs2958182 (T) and rs17512836 (C)) were tested for association with characteristic psychosis phenotypes, including neurocognitive traits, psychotic symptoms and structural magnetic resonance imaging brain morphometric measures, using a linear regression model. Further, we explored the association of additional 59 single nucleotide polymorphisms (SNPs) covering the TCF4 gene to these phenotypes. The rs12966547 and rs4309482 risk variants were associated with poorer verbal fluency in the total sample. There were significant associations of other TCF4 SNPs with negative symptoms, verbal learning, executive functioning and age at onset in psychotic patients and brain abnormalities in total sample. The TCF4 mRNA expression level was significantly increased in psychosis patients compared with controls and positively correlated with positive- and negative-symptom levels. The increase in TCF4 mRNA expression level in psychosis patients and the association of TCF4 SNPs with core psychotic phenotypes across clinical, cognitive and brain morphological domains support that common TCF4 variants are involved in psychosis pathology, probably related to abnormal neurodevelopment.
TCF4 参与神经发育,位于或靠近 TCF4 基因的基因间和内含子变体与精神分裂症易感性有关。然而,TCF4 在基因表达水平上的功能作用以及与核心精神病表型严重程度的关系尚不清楚。在一个包括精神分裂症谱系障碍患者(n=596)和健康对照者(n=385)的大样本中,测定了外周血 TCF4 mRNA 表达水平。对先前鉴定的 TCF4 风险变体(rs12966547(G)、rs9960767(C)、rs4309482(A)、rs2958182(T)和 rs17512836(C))与特征性精神病表型(包括神经认知特征、精神病症状和结构磁共振成像脑形态计量学测量)的关联进行了测试,采用线性回归模型。此外,我们还探索了另外 59 个覆盖 TCF4 基因的单核苷酸多态性(SNP)与这些表型的关联。rs12966547 和 rs4309482 风险变体与总样本中较差的言语流畅性有关。在精神病患者中,其他 TCF4 SNPs 与阴性症状、言语学习、执行功能和发病年龄有关,在总样本中与脑异常有关。与对照组相比,精神分裂症患者的 TCF4 mRNA 表达水平显著升高,且与阳性和阴性症状水平呈正相关。精神分裂症患者 TCF4 mRNA 表达水平升高以及 TCF4 SNPs 与核心精神病表型的关联支持常见 TCF4 变体参与精神病发病机制,可能与异常神经发育有关。