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.
Frossard
P M
PM
Department of Pathology, Faculty of Medicine & Health Sciences, Al Ain, United Arab Emirates. frossard@emirates.net.ae
Lestringant
G G
GG
Malloy
M J
MJ
Kane
J P
JP
D000328:Adult; D000368:Aged; D000483:Alleles; D001794:Blood Pressure / Q000235:genetics; D016022:Case-Control Studies; D015252:Deoxyribonucleases, Type II Site-Specific / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D006973:Hypertension / Q000097:blood / Q000235:genetics* / Q000503:physiopathology; D007438:Introns; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012083:Renin / Q000097:blood / Q000235:genetics* / Q000502:physiology; D012189:Retrospective Studies; D014479:United Arab Emirates / Q000453:epidemiology; D014481:United States / Q000453:epidemiology; D044465:White People
D015252:Deoxyribonucleases, Type II Site-Specific; C018492:GCCNNNNNGGC-specific type II deoxyribonucleases; D012083:Renin