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和心功能的影响

Marla Darlene Machado Vale, Édina Caroline Ternus Ribeiro, Ingrid da Silveira Knobloch, Ida Vanessa Doederlein Schwartz, Fernanda Sperb-Ludwig, Gabriela Corrêa Souza
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引用次数: 0

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)的发病机制有关。这种多态性可能导致严重心衰和超重的更大倾向。目的:评价心衰患者的肥胖、心功能及其与ACE I/D多态性的关系。方法:对诊断为HF的≥18岁的非卧床患者进行横断面研究。采用聚合酶链反应和琼脂糖凝胶电泳进行遗传分析。超声心动图测定左室射血分数(LVEF)。采用体重指数评估营养状况,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。采用显著性水平为5% (p < 0.05)。结果:纳入71例患者,平均年龄55.8±13.0岁,男性居多(66.2%),功能等级为I级和II级(90.9%),中位LVEF为30%(24-40)。超重患病率为38%,I级肥胖患病率为23.9%,II和III级肥胖患病率为12.7%,其中BIA评估为50.7%为过度肥胖。共鉴定出ACE基因的88个D等位基因和54个I等位基因。ACE基因型中DD型占38.1%,ID型占47.8%,II型占14.1%。在多变量分析中,D等位基因(DD + ID基因型vs II基因型)与LVEF相关(PR = 0.995;95% ci 0.991-1.000;p = 0.048),与HF病因相关(扩张型心肌病:PR 1.283;95% ci 1.039-1.583;P = 0.021)。没有发现与肥胖的独立关联。结论:ACE多态性D等位基因的存在与LVEF和HF的病因有关。尽管超重在样本中普遍存在,但没有发现独立的关联。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Influence of Insertion/Deletion Polymorphism of the Angiotensin Converting Enzyme Gene on Adiposity and Cardiac Function in Patients with Heart Failure.

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.

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