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

Relationship between gene polymorphism of β1 adrenergic receptor and outflow tract ventricular premature

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。

Objective To investigate the relationship between IB 1 adrenergic receptor （13 l-AR）gene polymorphism and outflow tract ventricular premature （OTVP）in HaM Chinese children. Methods A case-control study was performed. A total of 151 children with OTVP were recruited, who were diagnosed in Beijing Children＇s Hospital from January 2014 to December 2015, and 150 healthy children served as controls. Peripheral blood samples were collected fl＇om all subjects and the genotype of [51-AR were determined by PCR, followed by direct sequencing. The frequency distribution of geno- types was compared between the OTVP and control groups. The association between polymorphism of 13 I-AR and OTVP was analyzed. Results The frequencies of ~,I-AR genotypes Arg/Arg, Arg/Gly and Gly/Gly were 50.5%, 38.5% and 11% in all children. The allelic frequencies of Arg389 and Gly389 were 69.8% and 30.2%. The allelic frequencies of Arg389 in female chidren were higher than in male（P = 0.005）.There were significant differences in the genotype and al- lele frequencies of [51-AR gene Arg389Gly between the OTVP and controls （P = 0.012, P = 0.002） , and Arg389 allele was a risk factor （OR = 1.733,95%CI： 1.218 - 2.466）. No differences of genotype were observed between different genders in children with OTVP（P = 0.088）, but there were significant differences in the genotype between loads of ventrieu- lar premature and nonsustained ventricular tachycardia （P = 0.029, P = 0.019）. Conclusion The gene polymorphism of Arg389Gly in [B1-AR might be associated with the OTVP in HaM Chinese children and Arg389 allele gene is a risk factor. The genotype of Arg/Arg might be a genetic susceptibility factor of high-level loads of ventricular premature and nonsustained ventricular tachycardia in children with OTVP.