期刊
SCHIZOPHRENIA BULLETIN
卷 36, 期 3, 页码 443-447出版社
OXFORD UNIV PRESS
DOI: 10.1093/schbul/sbq035
关键词
schizophrenia; mental retardation; transcription factor; Pitt-Hopkins syndrome; TCF4; NRXN1; CNTNAP2
类别
资金
- Wellcome Trust [WT088866]
- Medical Research Council
- MRC [G0800509] Funding Source: UKRI
- Medical Research Council [G0800509, G0801418B] Funding Source: researchfish
Genome-wide association studies allied with the identification of rare copy number variants have provided important insights into the genetic risk factors for schizophrenia. Recently, a meta-analysis of several genome-wide association studies found, in addition to several other markers, a single nucleotide polymorphism in intron 4 of the TCF4 gene that was associated with schizophrenia. TCF4 encodes a basic helix-loop-helix transcription factor that interacts with other transcription factors to activate or repress gene expression. TCF4 mutations also cause Pitt-Hopkins Syndrome, an autosomal-dominant neurodevelopmental disorder associated with severe mental retardation. Variants in the TCF4 gene may therefore be associated with a range of neuropsychiatric phenotypes, including schizophrenia. Recessive forms of Pitt-Hopkins syndrome are caused by mutations in NRXN1 and CNTNAP2. Interestingly, NRXN1 deletions have been reported in schizophrenia, whereas CNTNAP2 variants are associated with several neuropsychiatric phenotypes. These data suggest that TCF4, NRXN1, and CNTNAP2 may participate in a biological pathway that is altered in patients with schizophrenia and other neuropsychiatric disorders.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据