【摘要】 目的探讨β1肾上腺素受体(ADRB1)基因多态性Arg389Gly与小儿血管迷走性晕厥(VVS)发病的相关性。方法晕厥组为不明原因晕厥(unexplained syncope,UPS)患儿54例,其中男18例,女36例,平均11.8岁;对照组为同期健康体检儿童54例,其中男20例,女34例,平均11.2岁。入选病例均行直立倾斜试验(head-up tilt test,HUTT),根据HUTT结果,分HUTT阳性组即VVS组和HUTT阴性组,各组病例均应用聚合酶链反应PCR和基因测序方法检测ADRB1基因Arg389Gly多态性。结果健康儿童的等位基因Arg389和Gly389的频率分别为73.15%和26.85%,HUTT阳性患儿等位基因Arg389和Gly389的频率分别为66.67%和33.33%,HUTT阴性患儿等位基因Arg389和Gly389的频率分别为85.42%和14.58%;HUTT阳性患儿的Gly389等位基因频率明显高于HUTT阴性组患儿及健康对照儿(P<0.05)。HUTT阳性组共30例(55.6%),其临床分型中心脏抑制型6例(20.0%),混合型9例(30.0%),血管抑制型15例(50.0%),Gly389等位基因频率在各临床分型的分布为66.67%、33.3%和23.33%,心脏抑制型的Gly389等位基因频率高于混合型和血管抑制型(P<0.05)。结论Gly389等位基因频率与VVS有相关性,可考虑作为小儿VVS的候选易感基因,提供临床早期筛查;Gly389等位基因频率与VVS临床分型中的心脏抑制型有相关性,可为其个体化治疗—β受体阻滞剂治疗提供初步的分子生物学理论依据。更多还原

【Abstract】 Objective To investigate the associations between the Arg389Gly polymorphism of the β1-adrenergic receptor gene(ADRB1) and vasovagal syncope(VVS) in Chinese children.Methods Genotype of ADRB1 was determined by polymerase chain reaction-restriction fragment length polymorphism analysis.Case-control studies and quantitative trait analysis were carried out by comparing between carriers(one or two copies of the Gly389 allele) and non-carriers(Arg389 genotype) of the ADRB1 in 54 patients with unexplained syncope and in 54 healthy control subjects.Patients were subdivided into two groups according to head up tilt test(HUTT):positive HUTT,known as VVS group and negative HUTT group.Distribution of Arg389Gly genetype in VVS group and the relationship to three clinical patterns were also analyzed.Results An allele frequency of Arg389 was 73.15% and Gly389 was 26.85% in healthy subjects.Higher Gly389 allele frequency was found in VVS group(n=30) than that in negative HUTT group(33.33% vs.14.58%,P<0.05).In VVS group,the frequencies of the Gly389 allele in cardioinhibitory pattern(n=6),mixed pattern(n=9) and vasodepressor pattern(n=15) was 66.67%,33.3% and 23.33%,respectively,which had significant differences between the cardioinhibitory pattern from any of the other two patterns(both P<0.05).Conclusions An association of positive HUTT with a single nucleotide polymorphism of Gly to Arg switch at position 389 of the ADRB1 was found.This polymorphism may contribute to susceptibility to VVS.更多还原