Abstract

Essential hypertension (EH) is a principal contributing factor inworldwide cardiovascular disease mortality. Although interventions that minimizeenvironmental risk factors for EH are associated with reduced cardiovasculardisease, such approaches are limited for individuals with high genetic EH risk. Inthis study, we investigated possible associations between ACE2 polymorphisms andhypertension-related target organ damages in south Xinjiang, China. Four hundred andtwo hypertensive patients were enrolled as study participants in an EH group, and233 normotensive individuals were enrolled as control subjects. Participants wererecruited from the south Xinjiang region. Fourteen ACE2 polymorphisms were genotypedby matrix-assisted laser desorption ionization time-of-flight mass spectrometry.Risk genotypes of rs2074192 (TT+CT, OR = 1.72, 95% CI: 1.17–2.53), rs2106809 (TT,OR = 1.71, 95% CI: 1.13–2.58), rs4240157 (CC+CT, OR = 1.99, 95% CI: 1.17–3.41),rs4646155 (TT+CT, OR = 1.94, 95% CI: 1.06–3.54), rs4646188 (TT+CT, OR = 3.25, 95%CI: 1.95–5.41), rs4830542 (CC+CT, OR = 1.88, 95% CI: 1.10–3.23), and rs879922(CC+CG, OR = 4.86, 95% CI: 2.74–8.64) were associated with EH. Hypertensive patientscarrying the control genotype of rs2074192 (CC, OR = 2.37, 95% CI: 1.28–4.39) wereassociated with CAS ≥50%, while those carrying a high-EH-risk genotype of rs4240157(OR = 2.62, 95% CI: 1.24–5.54), rs4646155 (OR = 2.44, 95% CI: 1.16–5.10), orrs4830542 (CC+CT, OR = 2.20, 95% CI: 1.03–4.69) were associated with atrialfibrillation (AF), larger left atrial diameter, and higher levels ofrenin–angiotensin–aldosterone system (RAAS) activation (renin and angiotensin I/II).In conclusion, the ACE2 variant rs2074192 was associated with EH and EH with CAS≥50%, while 3 ACE2 variants (rs4240157, rs4646155, and rs4830542) were associatedwith EH- and hypertension-related AF and left atrial remodeling in south Xinjiang,China.

Highlights

  • These authors contributed : Yi Luo, Cheng LiuElectronic supplementary material The online version of this article contains supplementary material, which is available to authorized users.Essential hypertension (EH) is attributable to both genetic and environmental factors and is a major contributor to worldwide cardiovascular disease (CVD) mortality [1]

  • Hypertensive patients carrying the control genotype of rs2074192 (CC, odds ratio (OR) = 2.37, 95% CI: 1.28–4.39) were associated with carotid arteriosclerosis stenosis (CAS) ≥50%, while those carrying a high-EH-risk genotype of rs4240157 (OR = 2.62, 95% CI: 1.24–5.54), rs4646155 (OR = 2.44, 95% CI: 1.16–5.10), or rs4830542 (CC+CT, OR = 2.20, 95% CI: 1.03–4.69) were associated with atrial fibrillation (AF), larger left atrial diameter, and higher levels of renin–angiotensin–aldosterone system (RAAS) activation

  • This study addressed possible relationships between Angiotensin-converting enzyme 2 (ACE2) polymorphisms and EH in people of the south Xinjiang region of China

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Summary

Introduction

A recent prospective cohort study indicates that the prevalence of hypertension in China overall is as high as 32.5% [2], and the EH control rate for Chinese patients overall is only 4.2%, significantly lower than the 30–55% rate reported for Western patients [3, 4] Under these circumstances, addressing the challenge of preventing and treating EH in China should focus on decreasing prevalent risk factors that potentially affect all members of society [5, 6]. A meta-analysis of ACE2 gene polymorphism and EH association confirmed rs2285666 and rs2106809 were correlated with hypertension risk in persons of Han descent [15]. We investigated possible associations between ACE2 gene variation and hypertension-related target organ damage in south Xinjiang, China. Association of ACE2 genetic polymorphisms with hypertension-related target organ damages in south

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