A large number of imaging genetics studies have found that genetic mutation has an impact on the brain structure of schizophrenia, including gray matter volume (ACNA1C, NRGN, TCF4
, and ZNF804A), ventricle volume (TCF4
), cerebral cortex folds (NCAN) and thickness (ZNF804A), white matter integrity (ANK3 and ZNF804A), white matter volume (CACNA1C and ZNF804A), white matter density (ZNF804A), and so forth.
(1) Genetic mutation of the Transcription Factor 4 (TCF4
) gene is a known cause of PTHS.
However, the mechanism in this situation is still unclear and requires more detailed evaluation. In addition, high levels of MALAT1 have been reported in endometrioid endometrial cancer, in relation with aberrant activation of the Wnt/beta-catenin pathway where the Wnt-effector transcription factor TCF4
interacts with the MALAT1 promoter region.
Expression of Wnt pathway target genes was detected, including Myc, TCF4
, and CCND1, which were all inhibited after regulating LINC00261 (Figure 6C).
For example, a variant that is located at the edge of the 9th exon in transcription factor 4 (TCF4
) was detected by WES of an undiagnosed patient (who had features of a wide mouth, high cheekbones, deep-set eyes, limited speech, and severe intellectual disabilities, but who did not have the characteristic hyperventilation and epilepsy) and their unaffected parents.
We have shown that Bach1 binds to TCF4
, reduces the interaction of [beta]-catenin with TCF4
, and disrupts Wnt/[beta]-catenin signaling by recruiting histone deacetylase 1 to the promoter of TCF4-targeted genes .
The ethanol extract of Hedyotis diffusa Willd  could inhibit colon cancer stem cells sphere formation, differentiation in vitro by downregulating the [beta]-catenin and TCF4
mRNA, and inhibiting [beta]-catenin/Wnt pathway and CK20 and CD133 mRNA in colon cancer stem cells, which was time-dose dependent.
Based on the JASPAR database for predicting transcription factor binding, we found that the G allele of rs3731795 might increase the binding of transcription factors, such as TCF3, TFAP2A, and TCF4
, to the promoter of miR-10b, compared to the C allele (Table 4).
The genetic aetiology of PTHS is associated with haploinsufficiency of the Transcription factor 4 (TCF4
) located on the chromosome 18 (18q21.2).
Young et al., "Association of common variants in TCF4
and PTPRG with Fuchs' corneal dystrophy: a systematic review and meta-analysis," PloS One, vol.
Wnt/beta-catenin may represent a link between diabetes and cancer, due to the strong genetic association between specific polymorphisms in the TCF7L2 (TCF4
) gene and diabetes [102, 103].