AN MBOI 2-ALLELE POLYMORPHISM MAY IMPLICATE THE HUMAN RENIN GENE IN PRIMARY HYPERTENSION

As a key enzyme of the renin-angiotensin-aldosterone system, the renin gene (REN) is a good candidate quantitative trait locus that may be i mplicated in the molecular etiology of essential hypertension. Among m ixed reports on the subject, a REN MboI restriction fragment length po lymorphism has been shown to be significantly associated with a family history of hypertension in a Japanese population. We show here that t he REN MboI dimorphic site is located in the ninth intron of the gene, and we describe a polymerase chain reaction-based assay for detection of this site. We investigated MboI genotype distributions in 331 hype rtensive and 279 normotensive subjects from the United Arab Emirates ( UAE), a genetically homogeneous ethnic population with no history of s moking or alcohol consumption. A statistically significant association was found between alleles on which the MboI site is present and clini cal diagnosis of essential hypertension, indicating that 1) the presen ce of the MboI site is a marker for susceptibility to hypertension in the UAE (the associated odds ratio is 3.16); and 2) variations of the REN (or of a nearby) gene that may be in linkage disequilibrium with t his marker play a role in the development of essential hypertension in the UAE.