The sympathetic nervous system regulates blood pressure through effects on vascular tone, renal sodium reabsorption, and renin release [166]. Genetic variation in either the α-adrenergic receptor leading to enhanced vasoconstriction, or the β2 adrenoceptor leading to attenuated vasodilation, may be an important mechanism for enhanced peripheral resistance.
In multifactorial traits, like hypertension, a deleterious β2 adrenergic receptor genotype may exhibit incomplete penetrance where specific age or sex related factors and gene-environment or gene-gene interactions may be required to manifest genetic influence upon blood pressure [24].
Raised blood pressure may have a variable age of onset and it may be possible to possess a susceptibility allele at a given time point and not have high blood pressure [167]. Thus the influence on blood pressure of a specific β2 adrenoceptor genotype or haplotype may be more readily discernible in large prospective studies where blood pressure and cardiovascular risk factors have been carefully measured in the same cohort over time.
In this study, we tested wether there is association between the amino-acid changing mutations of the β2 adrenoceptor gene, essential hypertension as a qualitative trait and blood pressure as a quantitative trait in a cohort of White European British ancestry.
© 2001 Alexander Binder