Early Phenotypic Changes in Hypertension

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Although hypertension is a common trait, its etiology and pathogenesis are not well understood. Despite the increasing understanding of rare Mendelian forms of hypertension,1 the common variety of hypertension is likely to be a complex trait,2 with both hereditary and environmental determination. In the face of significant heritability yet uncertain mode of inheritance, a useful strategy may be to establish so-called “intermediate phenotypes” (Figure)3: ideally, simple Mendelian or monogenic traits that are associated with hypertension. The disorder may result from alterations in more than one gene, as well as different genes in subgroups of hypertensive subjects; hence, a particular intermediate phenotype may be present in all or only in a subgroup of essential hypertensives. Such a monogenic trait might be more directly determined by the action of a particular gene and, hence, subject to less environmental influence than a complex phenotype such as blood pressure. Thus, an intermediate phenotype might be helpful in identifying those offspring of essential hypertensives who have inherited susceptibility alleles predisposing them to later development of hypertension. The intermediate phenotype concept in hypertension. Evidence is accumulating for alteration of autonomic function in essential hypertension, especially activation of the sympathetic nervous system,3 which may be involved in not only the genesis of blood …