Association of the angiotensin-converting enzyme (ACE) gene G2350A dimorphism with essential hypertension

Abstract

Although the angiotensin converting enzyme (ACE) is a strong candidate gene for hypertension, the extensively studied insertion-deletion dimorphism in intron 16 was not found to be associated with it. Several new polymorphisms in the ACE gene were identified, among which a dimorphism in exon 17, ACE G2350A, has a significant effect on plasma ACE concentrations. To assess the value of genotyping the ACE G2350A dimorphism in a genetically homogeneous population, we carried out a retrospective, case-control study of dimorphism G2350A for a putative association with essential hypertension (EH) in a Gulf population (Emirati)-an ethnic group characterized by no alcohol intake and no cigarette smoking. We investigated a sample population of 254 Emirati, comprising 136 normotensive controls, and 118 patients with clinical diagnoses of EH. ACE G2350A alleles were visualized by assays based on polymerase chain reaction and restriction endonuclease analysis. The ACE G2350A dimorphism showed an association with EH (v 2 ¼ 6.71, 2 df, P ¼ 0.05). Further analysis revealed that the ACE G/G 2350 genotype was positively associated (OR ¼ 1.06-3.07, P ¼ 0.02) with EH. This is the first association study of the ACE G2350A dimorphism with EH, and the positive result might indicate that ACE could be a QTL for EH as originally thought.

Angiotensin-Converting Enzyme Gene 2350 G/A Polymorphism Is Associated with Left Ventricular Hypertrophy but Not Essential Hypertension

“…We also found no significant differences in SBP or DBP among the three genotypes of controls and untreated EH subjects. This result was not in agreement with the results of the only reported study carried out in an Emirati sample (23), which showed that the ACE GG 2350 genotype was positively associated (odds ratio [OR]=1.06-3.07, p= 0.02) with EH. The discrepancy is likely due to the heterogeneity of subject backgrounds.…”

Correlation between renin-angiotensin system gene polymorphisms and essential hypertension in the Chinese Yi ethnic group

“…18 The G2350A (rs4343) polymorphism, which is located in an exon, is related to the plasma ACE concentration. 19 ACE can increase vascular tension and increase blood pressure 21 Subsequent studies in south Indian, Malaysia and Pakistan also found that the polymorphism at this site was associated with blood pressure variability and EH. 15,22,23 Studies in the Chinese Han population demonstrated that the polymorphism at this site was not associated with EH.…”

Association study of the angiotensin-converting enzyme (ACE) gene G2350A dimorphism with myocardial infarction

“…A recent study from our laboratory, reported a significant association between G2350A polymorphism and essential hypertension in Emirati population (Mahmood et al, 2003), indicating that this polymorphism may be the functional mutation of the ACE gene. However, no association of G2350A polymorphism was found with MI in Emirati population.…”