Exploring the impact of angiotensin-converting enzyme (ACE) gene polymorphism on early diastolic function in hypertension using four-dimensional echocardiography.

IF 2.3 3区 医学 Q3 CARDIAC & CARDIOVASCULAR SYSTEMS BMC Cardiovascular Disorders Pub Date : 2025-02-12 DOI:10.1186/s12872-025-04498-x
Xinyu Cheng, Zhiyi Zong, Xiaofei Mei, Yufeng Jiang, Jinsheng Shen, Hezi Jiang, Hui Xu, Yafeng Zhou
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Abstract

Background: This study explores the relationship between angiotensin-converting enzyme (ACE) gene polymorphisms and early diastolic dysfunction in patients with hypertension utilizing four-dimensional echocardiography and assesses the prognosis.

Methods: This study consecutively selected 470 patients with hypertension who visited the Fourth Affiliated Hospital of Soochow University between September 2021 and August 2022, with 274 meeting the inclusion criteria. Hypertension gene testing was performed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) techniques, and the Hardy-Weinberg equilibrium test was used to confirm genetic equilibrium. Patients were categorized into the D allele group (n = 163) and the non-D allele group (n = 111). Diastolic function was assessed using four-dimensional echocardiography, which included averaging the E/e' ratio over three cardiac cycles, measuring the left atrial (LA) maximum volume index (LA volume), tricuspid regurgitation velocity (TR velocity), LA strain, and left ventricular isovolumic relaxation time (IVRT). Patients were subsequently classified into the diastolic dysfunction group (n = 133) and the normal diastolic function group (n = 141). Chi-square tests were used to analyze differences in diastolic function indicators between the groups, Logistic regression was applied to control for potential confounding factors, and receiver operating characteristic (ROC) curves were plotted to assess the predictive value of different ACE alleles for diastolic dysfunction in patients with hypertension.

Results: The genotype distribution in both the D allele group and the non-D allele group was consistent with Hardy-Weinberg equilibrium (P > 0.05). Compared to the non-D allele group, echocardiographic indicators in the D allele group showed a decline in diastolic function: the average E/e' ratio over three cardiac cycles (14.67 [13.82, 15.80] vs. 9.30 [8.12, 12.00]), LA volume (32.76 [29.34, 34.61] vs. 25.61 [22.63, 29.64] ml/m2), TR velocity (2.90 [2.40, 2.90] vs. 1.40 [1.10, 2.40] cm/s), LA strain (18.00 [14.00, 25.00] vs. 37.00 [24.00, 40.00] %), and IVRT (104.25 [95.87, 106.25] vs. 88.09 [80.99, 96.56] ms). Differences between each group were statistically significant (all P < 0.05). The number of patients with diastolic dysfunction was higher in the D allele group (n = 102; 62.6%) compared to the non-D allele group (n = 31; 27.9%). In the logistic regression model, the D allele was associated with an increased risk of early diastolic dysfunction in hypertension (OR = 4.32, 95% CI = 2.56-7.27, P < 0.01). In the adjusted model, the D allele remained associated with an elevated risk of early diastolic dysfunction in hypertension (OR = 3.83, 95% CI = 2.24-6.54, P < 0.01). ROC curve analysis indicated that the D allele has predictive value for early diastolic dysfunction in patients with hypertension (area under the curve [AUC], 0.667; 95% confidence interval [CI], 0.608-0.723; sensitivity, 76.7%; and specificity, 56.7%; P < 0.05).

Conclusions: The ACE-D allele is associated with early diastolic dysfunction in hypertension. ACE gene testing can enhance the predictive value for diastolic dysfunction in patients with hypertension.

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应用四维超声心动图探讨血管紧张素转换酶(ACE)基因多态性对高血压早期舒张功能的影响。
背景:本研究利用四维超声心动图探讨高血压患者血管紧张素转换酶(ACE)基因多态性与早期舒张功能障碍的关系,并评估预后。方法:本研究连续选取2021年9月至2022年8月在苏州大学第四附属医院就诊的高血压患者470例,其中符合纳入标准的患者274例。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术进行高血压基因检测,并采用Hardy-Weinberg平衡检验确认遗传平衡。将患者分为D等位基因组(163例)和非D等位基因组(111例)。采用四维超声心动图评估舒张功能,包括三个心动周期内E/ E比值的平均值、左房(LA)最大容积指数(LA volume)、三尖瓣反流速度(TR velocity)、左房应变(LA strain)和左室等容松弛时间(IVRT)。随后将患者分为舒张功能不全组(n = 133)和舒张功能正常组(n = 141)。采用卡方检验分析两组间舒张功能指标的差异,采用Logistic回归控制潜在混杂因素,绘制受试者工作特征(ROC)曲线,评价不同ACE等位基因对高血压患者舒张功能障碍的预测价值。结果:D等位基因组和非D等位基因组的基因型分布均符合Hardy-Weinberg平衡(P < 0.05)。与非D等位基因组相比,D等位基因组的超声心动图指标显示舒张功能下降:三个心动周期的平均E/ E′比(14.67[13.82,15.80]比9.30[8.12,12.00])、LA容积(32.76[29.34,34.61]比25.61 [22.63,29.64]ml/m2)、TR流速(2.90[2.40,2.90]比1.40 [1.10,2.40]cm/s)、LA应变(18.00[14.00,25.00]比37.00[24.00,40.00]%)、IVRT(104.25[95.87, 106.25]比88.09 [80.99,96.56]ms)。结论:ACE-D等位基因与高血压患者早期舒张功能障碍有关。ACE基因检测可提高高血压患者舒张功能障碍的预测价值。
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来源期刊
BMC Cardiovascular Disorders
BMC Cardiovascular Disorders CARDIAC & CARDIOVASCULAR SYSTEMS-
CiteScore
3.50
自引率
0.00%
发文量
480
审稿时长
1 months
期刊介绍: BMC Cardiovascular Disorders is an open access, peer-reviewed journal that considers articles on all aspects of the prevention, diagnosis and management of disorders of the heart and circulatory system, as well as related molecular and cell biology, genetics, pathophysiology, epidemiology, and controlled trials.
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