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血管紧张素转换酶基因插入/缺失多态性对心力衰竭患者肥胖及心功能的影响

Influence of Insertion/Deletion Polymorphism of the Angiotensin Converting Enzyme Gene on Adiposity and Cardiac Function in Patients with Heart Failure.

作者信息

Vale Marla Darlene Machado, Ribeiro Édina Caroline Ternus, Knobloch Ingrid da Silveira, Schwartz Ida Vanessa Doederlein, Sperb-Ludwig Fernanda, Souza Gabriela Corrêa

机构信息

Programa de Pós-Graduação em Alimentação, Nutrição e Saúde - Universidade Federal do Rio Grande do Sul, Porto Alegre, RS - Brasil.

Hospital de Clínicas de Porto Alegre, Porto Alegre, RS - Brasil.

出版信息

Arq Bras Cardiol. 2025 Jan;122(1):e20240204. doi: 10.36660/abc.20240204.

Abstract

BACKGROUND

The angiotensin-converting enzyme (ACE) insertion/deletion (I/D) polymorphism (rs4340) is associated with the pathogenesis of heart failure (HF). This polymorphism may contribute to a greater propensity for severe HF and excess weight.

OBJECTIVE

To evaluate adiposity, cardiac function, and their association with ACE I/D polymorphism in HF patients.

METHODS

Cross-sectional study with ambulatory individuals ≥18 years diagnosed with HF. Genetic analysis was performed using polymerase chain reaction followed by agarose gel electrophoresis. Left ventricular ejection fraction (LVEF) was determined by echocardiography. Nutritional status was assessed using body mass index, while adiposity was analyzed using bioelectrical impedance analysis (BIA), waist circumference, waist-to-hip ratio, and waist-to-height ratio. The adopted significance level was 5% (p < 0.05).

RESULTS

Seventy-one individuals were included, with a mean age of 55.8 ± 13.0 years, predominantly male (66.2%), with functional class I and II (90.9%), and a median LVEF of 30% (24-40). The prevalence of overweight was 38%, class I obesity was 23.9%, and class II and III obesity was 12.7%, with 50.7% exhibiting excess adiposity as assessed by BIA. A total of 88 D alleles and 54 I alleles of the ACE gene were identified. Regarding ACE genotypes, 38.1% were DD, 47.8% were ID, and 14.1% were II. In the multivariate analysis, the D allele (DD + ID genotypes versus II) was associated with LVEF (PR 0.995; 95% CI 0.991-1.000; p = 0.048) and with the etiology of HF (dilated cardiomyopathy: PR 1.283; 95% CI 1.039-1.583; p = 0.021). No independent association was found with adiposity.

CONCLUSION

The presence of the D allele of the ACE polymorphism is associated with LVEF and HF etiology. Despite overweight being prevalent in the sample, no independent associations were found.

摘要

背景

血管紧张素转换酶(ACE)插入/缺失(I/D)多态性(rs4340)与心力衰竭(HF)的发病机制相关。这种多态性可能导致严重HF和超重的倾向增加。

目的

评估HF患者的肥胖、心脏功能及其与ACE I/D多态性的关联。

方法

对≥18岁诊断为HF的门诊患者进行横断面研究。采用聚合酶链反应继以琼脂糖凝胶电泳进行基因分析。通过超声心动图测定左心室射血分数(LVEF)。使用体重指数评估营养状况,同时采用生物电阻抗分析(BIA)、腰围、腰臀比和腰高比分析肥胖情况。采用的显著性水平为5%(p<0.05)。

结果

纳入71例个体,平均年龄55.8±13.0岁,以男性为主(66.2%),心功能分级为I级和II级(90.9%),LVEF中位数为30%(24-40)。超重患病率为38%,I级肥胖为23.9%,II级和III级肥胖为12.7%,根据BIA评估,50.7%存在肥胖。共鉴定出88个ACE基因的D等位基因和54个I等位基因。关于ACE基因型,38.1%为DD,47.8%为ID,14.1%为II。在多变量分析中,D等位基因(DD+ID基因型与II基因型相比)与LVEF(PR 0.995;95%CI 0.991-1.000;p=0.048)以及HF病因(扩张型心肌病:PR 1.283;95%CI 1.039-1.583;p=0.021)相关。未发现与肥胖有独立关联。

结论

ACE多态性的D等位基因的存在与LVEF和HF病因相关。尽管样本中超重情况普遍,但未发现独立关联。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2638/11841369/e07fa86db521/0066-782X-abc-122-1-e20240204-gf01.jpg

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