title: An MboI two-allele polymorphism may implicate the human renin gene in primary hypertension.
abstract: As a key enzyme of the renin-angiotensin-aldosterone system, the renin gene (REN) is a good candidate quantitative trait locus that may be implicated in the molecular etiology of essential hypertension. Among mixed reports on the subject, a REN MboI restriction fragment length polymorphism has been shown to be significantly associated with a family history of hypertension in a Japanese population. We show here that the 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 hypertensive and 279 normotensive subjects from the United Arab Emirates (UAE), a genetically homogeneous ethnic population with no history of smoking or alcohol consumption. A statistically significant association was found between alleles on which the MboI site is present and clinical diagnosis of essential hypertension, indicating that 1) the presence 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 this marker play a role in the development of essential hypertension in the UAE.
authors.affiliation: Department of Pathology, Faculty of Medicine & Health Sciences, Al Ain, UAE.
authors.forename: P M
authors.initials: PM
authors.lastname: Frossard
authors.forename: G G
authors.initials: GG
authors.lastname: Lestringant
authors.forename: Y I
authors.initials: YI
authors.lastname: Elshahat
authors.forename: A
authors.initials: A
authors.lastname: John
authors.forename: E N
authors.initials: EN
authors.lastname: Obineche
mesh_terms: D000375:Aging / Q000502:physiology; D000483:Alleles; D015992:Body Mass Index; D002784:Cholesterol / Q000097:blood; D004247:DNA / Q000096:biosynthesis / Q000235:genetics; D005260:Female; D006801:Humans; D006973:Hypertension / Q000097:blood / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D019655:Quantitative Trait, Heritable; D012083:Renin / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012727:Sex Characteristics; D015265:Site-Specific DNA-Methyltransferase (Adenine-Specific) / Q000235:genetics*; D014479:United Arab Emirates
chemical_list: D004247:DNA; D002784:Cholesterol; C064811:DNA modification methylase MboI; D015265:Site-Specific DNA-Methyltransferase (Adenine-Specific); D012083:Renin