title: Association of angiotensin converting enzyme gene polymorphisms with left ventricular hypertrophy.
abstract: The angiotensin converting enzyme gene (ACE) is of much interest as a candidate gene conferring an individual's genetic susceptibility to left ventricular hypertrophy (LVH). LVH has long been thought to be an end point of essential hypertension (EH), rather than a separate entity, though it is influenced by a unique set of hormonal, vascular and genetic factors. In this study, we attempted to determine whether two representative polymorphisms of the ACE gene, ACE I/D and 2350 G>A, known to be associated with EH and to have a highly significant influence on plasma ACE levels, could implicate ACE as a quantitative trait locus (QTL) for LVH. We carried out a retrospective, case-control study of the two ACE polymorphisms amongst 180 nationals (50 LVH patients and 130 controls) from the United Arab Emirates (Emirati)--an ethnic group characterized by an absence of alcohol intake and cigarette smoking--for putative correlations with LVH. Clinical diagnoses of LVH were based on echocardiographic and ECG criteria. ACE I/D and 2350 G>A genotypes were determined by polymerase chain reaction (PCR) and restriction digestion. Univariate and multivariate logistic regression analyses revealed an association between ACE polymorphisms and LVH. Haplotype analysis further supported this finding. The ACE I/D and ACE 2350 G>A polymorphisms were in strong linkage disequilibrium and were independently associated with LVH, suggesting that ACE is likely to be a QTL for LVH. In conclusion, This is the first association study of the ACE 2350 G>A polymorphism with LVH; the results showed that this polymorphism, along with ACE I/D, is associated with LVH.
authors.affiliation: From the Department of Biological and Biomedical Sciences, Aga Khan University, Karachi, Pakistan.
authors.forename: Mohammad
authors.initials: M
authors.lastname: Saeed
authors.forename: Danish
authors.initials: D
authors.lastname: Saleheen
authors.forename: Sammer
authors.initials: S
authors.lastname: Siddiqui
authors.forename: Aisha
authors.initials: A
authors.lastname: Khan
authors.forename: Zahid A
authors.initials: ZA
authors.lastname: Butt
authors.forename: Philippe M
authors.initials: PM
authors.lastname: Frossard
mesh_terms: D000328:Adult; D000368:Aged; D018912:Arabs / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000208:ethnology; D005838:Genotype; D006801:Humans; D006973:Hypertension / Q000235:genetics; D017379:Hypertrophy, Left Ventricular / Q000208:ethnology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D007703:Peptidyl-Dipeptidase A / Q000235:genetics*; D010865:Pilot Projects; D011110:Polymorphism, Genetic; D012189:Retrospective Studies; D014479:United Arab Emirates / Q000453:epidemiology
chemical_list: D007703:Peptidyl-Dipeptidase A