基质金属蛋白酶 2 型基因 rs1132896 多态性与急性脑血管意外发生的关系:前瞻性病例对照研究

CardioSomatics Pub Date : 2023-12-20 DOI:10.17816/cs569019
D. Nikulin, A. Chernova, S. Nikulina, S. Prokopenko, I. Cherkashina
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引用次数: 0

摘要

背景:该研究的重点是在俄罗斯人群中发现新的遗传预测因子,尤其是基质金属蛋白酶 2 型基因(MMP-2)的 rs1132896 多态性与急性脑血管意外(ACVA)发病的关系。 目的:研究rs1132896基因MMP-2多态性与急性脑血管意外发生的关系。 材料与方法:该前瞻性病例对照研究共纳入 318 名脑卒中患者(主组)和 323 名对照者(对照组)。主组患者的年龄介于 32 岁至 69 岁 [57.0; 51.0-62.0] 之间。对照组患者的年龄介于 37 岁至 68 岁 [55.0; 51.0-62.0] 之间,与主组相当。性别畸形情况如下男性 191 人(年龄 [56.5; 51.0-62.0]),女性 127 人(年龄 [57.0; 51.0-62.0])。对照组的性别组成与主要组一致:男性 214 人(年龄 [55.0; 51.0-62.0] ),女性 109 人(年龄 [55.0; 51.0-62.0] )。主要群体接受了临床检查、脑部计算机断层扫描、心电图、超声心动图、颅外肱动脉双工超声扫描、24 小时血压和心率监测以及血液凝固系统分析。分子遗传学研究在俄罗斯科学院西伯利亚分院细胞学和遗传学研究所(新西伯利亚)的一个分部进行。所有患者都提供了自愿参与研究的书面知情同意书。研究期限为 3 年,从 2019 年开始。研究的主要终点是中风诊断、合并心血管疾病的核实以及中风发生的风险因素。研究结果的统计处理采用 SPSS Statistics v. 22(美国 IBM 公司)和 MedCalc 22.006(美国 Microsoft 公司)。在比较扩展变量时,使用 Mann-Whitney U 检验。离散值的比较采用 Pearson's χ2 检验。 结果:在进行统计学意义分析时,男性脑卒中患者以同源 CC 基因型为主:24 人(12.6%) vs 20 人(9.3%;P=0.0324)。此外,在女性中风患者组中,杂合 CG 基因型的患者在统计学上明显占优势:n=67(52.8%) vs n=42(38.5%;p=0.0420)。 结论:男性的同源 CC 基因型和女性的杂合 CG 基因型可能是 ACVA 发病的遗传预测因素。有必要对 ACVA 发病的遗传因素进行研究,以便在门诊和住院治疗阶段对患者进行个性化管理。
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Associations of the rs1132896 polymorphism of the matrix metalloproteinase type 2 gene with the development of acute cerebrovascular accident: prospective case–control study
BACKGROUND: The study focused on the identification of new genetic predictors in the Russian population, particularly associations of the rs1132896 polymorphism of the matrix metalloproteinase type 2 gene (MMP-2) with the development of acute cerebrovascular accident (ACVA). OBJECTIVE: To investigate the relationship of rs1132896 gene MMP-2 polymorphisms with ACVA development. MATERIALS AND METHODS: The prospective, case–control study enrolled 318 patients with stroke (main group) and 323 controls (control group). The age of the patients in the main group ranged from 32 to 69 [57.0; 51.0–62.0] years. In the control group, the age of the patients ranged from 37 to 68 [55.0; 51.0–62.0] years, which was comparable to that of the main group. Sexual dimorphism was as follows: 191 men (age [56.5; 51.0–62.0]) and 127 women (age [57.0; 51.0–62.0]). The sex composition in the control group corresponded to that in the main group: 214 men (age [55.0; 51.0–62.0]) and 109 women (age [55.0; 51.0–62.0]). The main group underwent clinical examination, computed tomography of the brain, electrocardiography, echocardioscopy, duplex ultrasound scanning of the extracranial brachiocephalic arteries, 24-h monitoring of blood pressure and heart rate, and analysis of the blood coagulation system. Molecular genetic research was conducted at a branch of the Institute of Cytology and Genetics of the Siberian Branch of RAS (Novosibirsk). All patients provided written informed consent to participate voluntarily in the study. The duration of the study was 3 years, starting in 2019. The primary study endpoint was a diagnosis of stroke, verification of concomitant cardiovascular pathology, and risk factors for stroke development. Statistical processing of the results was performed using SPSS Statistics v. 22 (IBM Corp., USA) and MedCalc 22.006 (Microsoft, USA). When comparing extended variables, the Mann–Whitney U-test was used. Discrete values were compared using Pearson’s χ2 test. RESULTS: When analyzing statistical significance, a predominance of the homozygous CC genotype was recorded in the group of male patients with stroke: n=24 (12.6%) vs n=20 (9.3%; p=0.0324). In addition, in the group of women, a statistically significant predominance of the heterozygous CG genotype was noted in women with stroke: n=67 (52.8%) vs n=42 (38.5%; p=0.0420). CONCLUSION: The homozygous CC genotype in men and the heterozygous CG genotype in women may be genetic predictors of the development of ACVA. The study of genetic factors in the development of ACVA is necessary to create a personalized approach to patient management at the outpatient and inpatient stages of medical care.
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