Human renin gene Bgl I dimorphism associated with hypertension in two independent populations

Abstract
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 mmHg, p=0.04; and 91.0±12.5 vs. 82.2±12.7 mmHg, p=0.009).In conclusion, variations of the REN (or of a nearby) gene that may be in linkage disequilibrium with the RENBglI(+) 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.