Association of the I/D polymorphism of angiotensinconverting enzyme gene with the development of essential hypertension

O. Pavlova, S. Ogurtsova, M. Liventseva, T. H. Lakotko, I. Korobko, V. Shyshko, A. Mrochek
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引用次数: 1

Abstract

Objective. To determine the impact of the I/D polymorphism of the angiotensin-converting enzyme (ACE) gene on the development of essential hypertension, taking into account gender differences.Material and Methods. Clinical data were assessed and a molecular genetic study was performed in 602 people including 401 patients with essential hypertension and 201 individuals of the control group, representing the Belarusian ethnic group. Genotyping was performed using the method of polymerase chain reaction and restriction fragment length polymorphism.Results. The distribution of genotypes of the I/D polymorphism of the ACE gene did not differ between patients with hypertension and normotensive individuals: II, ID, and DD genotypes were detected in 100 (24.9%), 192 (47.9%), and 109 (27.2%) patients and in 52 (25.9%), 108 (53.7%), and 41 (20.4%) people of the comparison group, respectively. Differences were found between the distribution of DD genotype in men with hypertension and in the control group, where the frequencies were 28.4% and 17.3% (p  =  0.04), respectively, in contrast to no differences in women: 25.8% and 23.3% (p  =  0.64), respectively. Carrying the DD genotype in men compared with the ID and DD genotypes (recessive model) of the I/D polymorphism of the ACE gene increased the probability of developing essential hypertension by 1.9 times (OR   =   1.89; 95% CI  =  1.04-3.44). The analysis of the prevalence of risk factors depending on the I/D polymorphism of the ACE gene showed that male patients with the DD genotype more often had burdened heredity in regard to the development of premature cardiovascular diseases (23 patients (37.7%)) compared with the individuals with II and ID genotypes: 13 (21.7%) and 14 (14.9%) patients, respectively (χ2  =  1.16; p  =   0.005), and mainly through the paternal line.Conclusions. Development of essential hypertension is associated with the carriership of the mutant DD genotype of I/D polymorphism of the ACE gene in men. 
血管紧张素转换酶基因I/D多态性与原发性高血压的关系
目标。在考虑性别差异的情况下,确定血管紧张素转换酶(ACE)基因I/D多态性对原发性高血压发病的影响。材料和方法。对602人的临床资料进行了评估,并进行了分子遗传学研究,其中包括401名原发性高血压患者和201名代表白俄罗斯民族的对照组。采用聚合酶链反应法和限制性内切片段长度多态性法进行基因分型。ACE基因I/D多态性的基因型分布在高血压患者和正常血压患者之间没有差异:II、ID和DD基因型分别在100例(24.9%)、192例(47.9%)和109例(27.2%)中检测到,对照组分别在52例(25.9%)、108例(53.7%)和41例(20.4%)中检测到。DD基因型在男性高血压患者和对照组中的分布存在差异,前者的频率分别为28.4%和17.3% (p = 0.04),而女性无差异,分别为25.8%和23.3% (p = 0.64)。与ACE基因I/D多态性的ID和DD基因型(隐性模型)相比,携带DD基因型的男性患原发性高血压的概率增加1.9倍(OR = 1.89;95% ci = 1.04-3.44)。基于ACE基因I/D多态性的危险因素流行率分析显示,男性DD基因型患者发生早发性心血管疾病的遗传负担较多(23例(37.7%)),II和ID基因型患者分别为13例(21.7%)和14例(14.9%),差异有统计学意义(χ2 = 1.16;p = 0.005),主要通过父系遗传。原发性高血压的发生与男性ACE基因I/D多态性突变DD基因型携带者有关。
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