Figure 7. Human DBH genetic variation: schema for effects on autonomic and disease traits. (a) DBH promoter polymorphism and DBH release. Hypothesis for a negative feedback mechanism(s) whereby DBH promoter variants may influence catecholamine release, with indirect/systemic/feedback effects upon subsequent DBH release. (b) “Intermediate” phenotype hypothesis for DBH. Framework for integration of the experimental results for DBH genetic variation, early/proximate autonomic traits (such as DBH secretion into plasma), and later disease traits (such as hypertension). BP, blood pressure; DBH, dopamine β-hydroxylase; PACAP, pituitary adenylate cyclase-activating polypeptide.
