Hypertension is a complex quantitative trait under polygenic control.
The identification of genes responsible for high blood pressure is of
major importance, because it provides a mechanistic classification of
the common phenotype and guide therapy tailored to the underlying prim
ary abnormality. Experimental studies have identified several quantita
tive trait loci for blood pressure and other cardiovascular phenotypes
. Further strategies that include congenic and subcongenic lines shoul
d ultimately lead to positional cloning of the causative genes, but th
is final step remains elusive at present. Human studies have focused o
n the rare Mendelian forms of human hypertension or candidate gene stu
dies. Moreover, two recent examples show direct translation of a candi
date gene and a quantitative trait locus from the experimental setting
to human investigation. These strategies, together with new molecular
genetic tools, will ultimately result in the identification of major
genes contributing to human essential hypertension.