Human renin gene BglI dimorphism associated with hypertension in two independent populations

The renin (REN) gene is a good candidate that could underlie an individual's genetic susceptibility to human essential hypertension (EHT). We describe here a polymerase chain reaction-based assay for detection of a BglI dimorphic site located in the first intron of the REN gene. In this retrospective, case-control, association study, we investigated BglI allele and genotype distributions in 554 subjects (280 hypertensives and 274 normotensives) from the United Arab Emirates (UAE) - a genetically homogeneous ethnic population with no history of smoking or alcohol consumption - and in 485 hypercholesterolemic, US Caucasian subjects (250 hypertensives and 235 normotensives). A statistically significant association was found between alleles on which the BglI site is present [BglI(+)] and clinical diagnosis of EHT in the UAE sample group (odds ratio = 2.69, p = 0.0006), and a similar trend was observed in the US group (odds ratio = 1.97, p = 0.01). BglI(+) homozygous status was also investigated in the US group and found to be associated with elevated systolic and diastolic blood pressure values (respectively, 144.8+/-26.1 vs. 134.1+/-23.0 mm Hg, p = 0.04; and 91.0+/-12.5 vs. 82.2+/-12.7 mm Hg, p = 0.009). In conclusion, variations of the REN (or of a nearby) gene that may be in linkage disequilibrium with the REN BglI(+) marker could play a role in contributing to an increased individual's genetic susceptibility to EHT in the UAE population and amongst US hypercholesterolemic Caucasians. Such a genetic influence, which seems to show a recessive mode of inheritance, could also be implicated in raising both systolic and diastolic blood pressures.