Mitro Peter, Mudráková Klaudia, Micková Helena, Dudás Ján, Kirsch Peter, Valocik Gabriel
Clinic of Internal Medicine III, Medical Faculty, P.J. Safarik University, Kosice, Slovakia.
Pacing Clin Electrophysiol. 2008 Dec;31(12):1571-80. doi: 10.1111/j.1540-8159.2008.01228.x.
The aim of the study was to evaluate the renin-angiotensin system and serotonin transporter gene polymorphisms in relation to hemodynamic parameters and heart rate variability during a head-up tilt test (HUT) in patients with vasovagal syncope.
DNA was collected from 191 patients (mean age 44+/-18 years, 61 men, 130 women). The following gene polymorphisms were determined in genomic DNA: angiotensin-converting enzyme insertion/deletion polymorphism (I/D ACE), angiotensinogen gene polymorphism (M 235), angiotensin II receptor type 1 (ATR1) polymorphism (A 11666C), and polymorphism of serotonin transporter gene (5HTTLPR).Heart rate variability during HUT was assessed in 5-minute intervals by low frequency, high frequency, standard deviation of the normal-to-normal (SDNN), and root mean square successive difference parameters.
AA genotype of A 1166C polymorphism was associated with lower minimal systolic blood pressure (SBP) and diastolic blood pressure (DBP) during HUT compared with other genotypes (minimal SBP: AA 59.6+/-21,8, AC 79.9+/-22.7, CC 65.4+/-22.7 mmHg, P=0.007), (minimal DBP: AA 36.4+/-22.7, AC 52.3+/-22.9, CC 45.4+/-19.5 mmHg, P=0.007).AA genotype was also associated with higher SDNN compared to other genotypes in the early phase of HUT (SDNN in 5 minutes of tilt: AA 59.7+/-24.6, AC 50.6+/-20.6, CC 46.0+/-13.2, P=0.01) and at syncope occurrence (SDNN: AA 71.0+/-20.9, AC 58.2+/-17.9, CC 58+/-10, P=0.04)
AA genotype of A 1166C polymorphism in the ATR1 gene may be associated with hypotension and decline in sympathetic tone during HUT. Its role in genetic predisposition to vasovagal syncope cannot be excluded.
本研究旨在评估血管迷走性晕厥患者在头高位倾斜试验(HUT)期间肾素 - 血管紧张素系统和血清素转运体基因多态性与血流动力学参数及心率变异性的关系。
收集了191例患者(平均年龄44±18岁,男性61例,女性130例)的DNA。在基因组DNA中测定了以下基因多态性:血管紧张素转换酶插入/缺失多态性(I/D ACE)、血管紧张素原基因多态性(M 235)、血管紧张素II 1型受体(ATR1)多态性(A 11666C)以及血清素转运体基因多态性(5HTTLPR)。通过低频、高频、正常到正常的标准差(SDNN)以及均方根连续差值参数,以5分钟为间隔评估HUT期间的心率变异性。
与其他基因型相比,A 1166C多态性的AA基因型在HUT期间与较低的最低收缩压(SBP)和舒张压(DBP)相关(最低SBP:AA 59.6±21.8,AC 79.9±22.7,CC 65.4±22.7 mmHg,P = 0.007),(最低DBP:AA 36.4±22.7,AC 52.3±22.9,CC 45.4±19.5 mmHg,P = 0.007)。在HUT早期,AA基因型与其他基因型相比也与更高的SDNN相关(倾斜5分钟时的SDNN:AA 59.7±24.6,AC 50.6±20.6,CC 46.0±13.2,P = 0.01)以及在晕厥发生时(SDNN:AA 71.0±20.9,AC 58.2±17.9,CC 58±10,P = 0.04)。
ATR1基因中A 1166C多态性的AA基因型可能与HUT期间的低血压和交感神经张力下降有关。不能排除其在血管迷走性晕厥遗传易感性中的作用。