β1肾上腺素受体基因多态性与流出道室性早搏相关性研究

发布时间：2018-05-29 07:00

本文选题：肾上腺素受体 + 多态性　；参考：《中国实用儿科杂志》2017年08期

【摘要】：目的研究β1肾上腺素受体(β1-AR)基因多态性与中国汉族儿童特发性流出道室性早搏(OTVP)的相关性。方法采用病例对照研究方法,收集2014年1月至2015年12月在首都医科大学附属北京儿童医院心内科住院治疗的OTVP组患儿共151例,对照组为同期健康体检儿童150名;各组病例均抽取外周血,应用聚合酶链反应(PCR)和直接基因测序的技术检测β1-AR基因Arg389Gly位点多态性,分析2组患儿的基因型分布及等位基因频率;评估β1-AR基因Arg389Gly多态性与儿童OTVP的发病相关性。结果 301例受试对象中Arg/Arg、Arg/Gly、Gly/Gly基因型频率分别为50.5%、38.5%、11.0%;Arg389等位基因频率为69.8%,Gly389等位基因频率为30.2%;女童Arg389等位基因频率高于男童(P=0.005);Arg389Gly基因型及等位基因频率在OTVP组及健康对照组差异有统计学意义(分别为P=0.012和P=0.002),携带Arg等位基因发生OTVP的危险性大(OR=1.733,95%CI:1.218~2.466);OTVP组患儿基因型分布在不同性别间比较差异无统计学意义(P=0.088),在不同室早负荷及有无合并非持续性室速等指标间差异有统计学意义(分别为P=0.029和P=0.019)。结论β1-AR基因Arg389Gly多态性与中国汉族儿童OTVP的发病有相关性,Arg等位基因为风险因子。Arg/Arg基因型可能是OTVP患儿室早负荷高及合并非持续性室速的遗传易感因素。
[Abstract]:Objective to study the association of 尾 1-adrenoceptor (尾 _ 1-ARR) gene polymorphism with OTVP in idiopathic outflow tract ventricular premature beat (VAP) in Chinese Han nationality. Methods from January 2014 to December 2015, a total of 151 children in the OTVP group who were hospitalized in the Department of Cardiology, Beijing Children's Hospital affiliated to Capital Medical University, and 150 healthy children in the control group, were collected from January 2014 to December 2015 by a case-control study. Polymerase chain reaction (PCR) and direct gene sequencing were used to detect the polymorphism of 尾 1-AR gene Arg389Gly locus, and the genotype distribution and allele frequency of the two groups were analyzed. To evaluate the association between 尾 1-AR gene Arg389Gly polymorphism and OTVP in children. Results in 301 subjects, the frequency of Argr / Argr Glycine / gly genotype was 50.5 and 38.55.The allele frequency of Arg389gly was 38.55.The allele frequency of Arg389gly in girls was higher than that in boys (38.5g / g), and the frequency of Arg389gly alleles in girls was higher than that in boys (39.8g389gly) in OTVP group and healthy control group. There was no significant difference in genotype distribution among different genders (P < 0.012 and P < 0.002, respectively). The risk of OTVP with Arg allele was 1.733C95 CI: 1.2182.466OTVP. There was no significant difference in genotype distribution among different genders (P < 0.088), and there was no significant difference between different ventricular premature load and complicated nonpersistent. There were significant differences in sex ventricular tachycardia (P < 0.029, P < 0.019). Conclusion Arg389Gly polymorphism of 尾 1-AR gene is associated with OTVP in Han Chinese children. Arg / Arg allele is a risk factor. Arg / Arg genotype may be a genetic predisposing factor of high ventricular premature load and unsustained ventricular tachycardia in OTVP children.
【作者单位】：首都医科大学附属北京儿童医院心脏内科;
【基金】：首都医科大学基础—临床科研合作基金项目(14JL74)
【分类号】：R725.4

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