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. 2020 Jan 9;16(1):e1008538. doi: 10.1371/journal.pgen.1008538

Fig 6. From SNP to phenotype.

Fig 6

A) Proposed mechanism of transcriptional regulation at the rs2107595 locus in the vessel wall. The major allele (left) is predicted to bind E2F transcription factors which are unresponsive to Notch signaling. The minor allele (right) creates a consensus RBPJ binding site which promotes TWIST1 gene transcription. B) The effect of TWIST1 protein on cardiovascular risk. In normal arteries, TWIST1 expression is low in fully differentiated smooth muscle cells of the tunica media (left). During early atherosclerosis (middle), there is increased TWIST1 expression in SMCs. This favors a de-differentiated SMC phenotype which increases SMC proliferation and increases coronary artery disease (right).