CORRELATIONS BETWEEN RFLPS OF THE HUMAN RENIN GENE LOCUS AND CLINICAL-VARIABLES OF BLOOD-PRESSURE REGULATION

With the aim of identifying quantitative trait loci (QTLs) involved in blood pressure regulation, we have investigated correlations between DNA dimorphisms and clinical determinations pertaining to blood pressu re, sodium and potassium excretion, aldosterone levels and plasma reni n activity. Four restriction fragment length polymorphisms (RFLPs) at the human renin gene locus have been studied in a North American, Cauc asian population composed of 33 patients diagnosed with essential hype rtension and 23 normotensive individuals. Six of the 24 investigated a ssociations were significant. The presence of a Bgl II dimorphic site correlated with lower plasma renin activity (p<0.01) and lower urinary levels of aldosterone (p<0.01); the presence of a Hind III site was a ssociated with lower levels of urinary sodium (p<0.01) and potassium ( p<0.01); and the presence of a TaqI site correlated with lower values of plasma renin activity (p<0.01) and higher diastolic blood pressure (p<0.01). These studies suggest that variations of the human renin gen e may be correlated with individual differences in plasma renin levels and in urinary aldosterone, sodium and potassium and blood pressure; they may ultimately be useful to identify potential genetic difference s of intermediate phenotypes that contribute to blood pressure regulat ion.