Márquez Manlio F, Fragoso José Manuel, Pérez-Pérez Daniel, Cázares-Campos Iris, Totomoch-Serra Armando, Gómez-Flores Jorge Rafael, Vargas-Alarcón Gilberto
Department of Electrophysiology, Instituto Nacional de Cardiología Ignacio Chávez, Mexico City.
Department of Molecular Biology, Instituto Nacional de Cardiología Ignacio Chávez, Mexico City.
Rev Invest Clin. 2019;71(2):124-132. doi: 10.24875/RIC.18002734.
Vasovagal syncope (VVS) is a frequent clinical condition in which a genetic background seems to be implicated. Considering that the adrenergic receptors (ARs) may play a role in VVS, the present study has as principal aim to determine if the α- and β-AR (ADRA and ADRB) gene polymorphisms are associated with an increased risk to have a positive head-up tilt table (HUTT) test in patients with VVS. Methods: Nine polymorphisms in the ADRA1A (rs1048101, rs1383914, rs574584, and rs573542), ADRB1 (rs1801252 and rs1801253), ADRB2 (rs1042713 and rs1042714), and ADRB3 (rs4994) genes were analyzed using the 5' exonuclease TaqMan genotyping assay in a group of 134 patients with VVS.
Under different models, the rs1801252 (OR = 8.63, 95% CI: 0.95-78.72, P = 0.02), rs1042713 (OR = 1.94, 95% CI: 1.02-3.66, P = 0.04), and rs4994 (OR = 2.46, 95% CI: 1.01-6.01, P = 0.042 and OR = 2.62, 95% CI: 1.04-6.63, P = 0.03) polymorphisms were associated with increased risk for a positive HUTT. All models were adjusted for statistically significant covariates.
These results suggest that some polymorphisms of the β-AR genes could contribute to a positive tilt test in patients with VVS.
血管迷走性晕厥(VVS)是一种常见的临床病症,似乎存在遗传背景。鉴于肾上腺素能受体(ARs)可能在VVS中起作用,本研究的主要目的是确定α和β肾上腺素能受体(ADRA和ADRB)基因多态性是否与VVS患者直立倾斜试验(HUTT)阳性风险增加相关。方法:采用5'外切酶TaqMan基因分型检测法,对134例VVS患者的ADRA1A(rs1048101、rs1383914、rs574584和rs573542)、ADRB1(rs1801252和rs1801253)、ADRB2(rs1042713和rs1042714)和ADRB3(rs4994)基因中的9种多态性进行分析。
在不同模型下,rs1801252(OR = 8.63,95%CI:0.95 - 78.72,P = 0.02)、rs1042713(OR = 1.94,95%CI:1.02 - 3.66,P = 0.04)和rs4994(OR = 2.46,95%CI:1.01 - 6.01,P = 0.042;OR = 2.62,95%CI:1.04 - 6.63,P = 0.03)多态性与HUTT阳性风险增加相关。所有模型均针对具有统计学意义的协变量进行了调整。
这些结果表明,β肾上腺素能受体基因的某些多态性可能导致VVS患者倾斜试验阳性。