Hypertension and hypertensive left ventricular hypertrophy are associated with ACE2 genetic polymorphism

• Published in: Life sciences (1973) Vol. 225; pp. 39 - 45
• Main Authors: Fan, Zhimin, Wu, Guihai, Yue, Minghui, Ye, Jianfeng, Chen, Yequn, Xu, Bayi, Shu, Zhouwu, Zhu, Jinxiu, Lu, Nan, Tan, Xuerui
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier Inc 15.05.2019; Elsevier BV
• Subjects: ACE2; alleles; Angiotensin; Angiotensin converting enzyme 2; Blood pressure; case-control studies; Females; Gene polymorphism; genotyping; Haplotype; Haplotypes; Heart; Hypertension; Hypertrophy; Left ventricular hypertrophy; Males; patients; peptidyl-dipeptidase A; Polymorphism; Renin; Renin-angiotensin system; Risk; risk factors; Risk reduction; Single nucleotide polymorphism; systolic blood pressure; Ventricle; women; Single nucleotide polymorphism; Angiotensin converting enzyme 2; Renin-angiotensin system; Haplotype; Left ventricular hypertrophy
• ISSN: 0024-3205; 1879-0631; 1879-0631
• DOI: 10.1016/j.lfs.2019.03.059

Renin-angiotensin system modulates cardiac structure independent of blood pressure. The present study aimed at investigating whether single nucleotide polymorphism (SNP) and haplotype of angiotensin converting enzyme 2 (ACE2) could influence blood pressure and the susceptibility to hypertensive left ventricular hypertrophy (LVH). A total of 647 patients (347 females and 300 males) with newly diagnosed mild to moderate essential hypertension were enrolled in a blood pressure matched, case-control study. Four ACE2 tagSNPs (rs2074192, rs4646176, rs4646155 and rs2106809) were genotyped and major haplotypes consisting of these four SNPs were reconstructed for all subjects. In females, minor alleles of ACE2 rs2074192 and rs2106809 respectively conferred a 2.1 and 2.0 fold risk for LVH. ACE2 haplotype TCGT increased the risk for LVH while another haplotype CCGC decreased the risk in females. The covariates-adjusted mean left ventricular mass index was 11% greater in TCGT haplotype carriers than in noncarriers in women. In females, the covariates-adjusted mean systolic blood pressure was 3.4 mm Hg lower in CCGC haplotype carriers than in noncarriers. In males, the covariates-adjusted mean systolic blood pressure was 2.4 mm Hg lower in CCGC haplotype carriers than in noncarriers. ACE2 tagSNPs rs2074192 and rs2106809 as well as major haplotypes CCGC and TCGT may serve as novel risk markers for LVH in hypertensive patients.