慢性血管性脑病患者的ACE和AT2R1基因多态性:与神经影像学改变和认知功能的关系

K.V. Duve
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引用次数: 0

摘要

背景。鉴于ACE和AT2R1基因的协同作用及其对体内平衡过程维持的影响,我们的研究目的是确定所研究的ACE和AT2R1基因多态性变异与慢性血管性脑病(CVE)患者的神经影像学改变、动脉双工超声数据和认知功能之间的关联。材料和方法。回顾性分析145例CVE患者的医疗记录,其中18例患者进行了分子遗传学研究。对照组由年龄和性别具有代表性的12人组成。神经影像学采用多层计算机断层扫描或磁共振成像。采用经颅双工超声检测颅内外血管,观察脑血流状态。认知功能测试采用蒙特利尔认知评估。结果。在分析ACE基因I和D等位基因多态性I/D变异和AT2R1基因A1166C多态性与CVE神经影像学改变和脑血流动力学参数的关系时,发现它们的频率分布可能与胶质瘤现象的存在/不存在相关(62.69%的D等位基因携带者被诊断为胶质瘤,p <0.05);ACE基因的D/D基因型的频率分布与血管痉挛(72.73%的患者)、颈动脉系统血流量不足(72.73%的病例)和椎基底动脉功能不全(36.36%的人)之间可能存在关系。基于蒙特利尔认知评估评分评价CVE患者认知功能对ACE基因I/D多态性变异和AT2R1基因A1166C多态性变异的依赖性时,ACE基因I/D多态性变异的基因型和等位基因的频率分布可能发生变化(χ2 = 11.33;p = 0.023),而所有D/D基因型携带者均存在认知功能受损(中度占36.36%,轻度占63.64%),这也与该队列患者中D等位基因分布的频率相对应(中度认知障碍占29.63%,轻度认知障碍占70.37%,p = 0.013)。结论。本研究结果提示ACE基因可能参与CVE神经影像学改变和认知能力下降的发生发展。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
ACE and AT2R1 gene polymorphism in patients with chronic vascular encephalopathy: association with neuroimaging changes and cognitive functioning
Background. Given the synergistic effect of the ACE and AT2R1 genes and their impact on the maintenance of homeostatic processes, the aim of our research was to identify the associations of the studied polymorphic variants of the ACE and AT2R1 genes with neuroimaging changes, data from arterial duplex ultrasound and cognitive functioning in patients with chronic vascular encephalopathy (CVE). Materials and methods. A retrospective analysis of 145 medical records of patients with CVE was conducted, of which 18 patients underwent a molecular genetic study. The control group consisted of 12 people representative in terms of age and gender. Neuroimaging was performed using multislice computed tomography or magnetic resonance imaging. The state of cerebral blood flow was studied using transcranial duplex ultrasound of intracranial and extracranial vessels. The cognitive functioning was tested using the Montreal Cognitive Assessment. Results. When analyzing the associations of polymorphic I/D variants of the ACE gene and A1166C of the AT2R1 gene with neuroimaging changes and parameters of cerebral hemodynamics in CVE among carriers of I and D alleles of the ACE gene, a probable relationship was found between their frequency distribution and the presence/absence of gliosis phenomena (62.69 % of D allele carriers were diagnosed with gliosis, p < 0.05); a probable relationship between the frequency distribution of the D/D genotype of the ACE gene and the presence of angiospasm (in 72.73 % of patients), insufficiency of blood flow in the carotid system (72.73 % of cases) and vertebrobasilar insufficiency (in 36.36 % of people). When evaluating the dependence of cognitive functions based on the Montreal Cognitive Assessment score in patients with CVE on the polymorphic I/D variants of the ACE gene and A1166C of the AT2R1 gene, probable changes were revealed in the frequency distribution of genotypes and alleles of the polymorphic I/D variant of the ACE gene (χ2 = 11.33; p = 0.023), while all carriers of the D/D genotype have impaired cognitive functioning (moderate in 36.36 % and mild in 63.64 % of cases), which also corresponds to the frequency of the D allele distribution in this cohort of patients (29.63 % of people have a moderate cognitive impairment and 70.37 % — a mild cognitive impairment, p = 0.013). Conclusions. The study results indicate that the ACE gene may be involved in the development of neuroimaging changes and cognitive decline in CVE.
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