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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 association between β1-adrenoceptor (β1-AR) gene polymorphism and idiopathic OTVP in Chinese Han children. Methods A case-control study was conducted in 151 OTVP-treated children hospitalized in Department of Cardiology, Beijing Children’s Hospital Affiliated to Capital Medical University from January 2014 to December 2015. The control group consisted of 150 healthy children in the same period. Groups Peripheral blood was drawn from patients. Polymerase chain reaction (PCR) and direct gene sequencing were used to detect the polymorphism of Arg389Gly locus in β1-AR gene. The genotype distribution and allele frequency of β1- Correlation between Arg389Gly polymorphism of AR gene and incidence of OTVP in children. Results The frequencies of Arg / Arg, Arg / Gly and Gly / Gly genotypes in the 301 subjects were 50.5%, 38.5% and 11.0%, respectively. The frequency of allele Arg389 was 69.8% and the frequency of Gly389 allele was 30.2% The frequency of Arg389 allele in girls was higher than that in boys (P = 0.005). The genotype and allele frequencies of Arg389Gly in OTVP group and healthy controls were significantly different (P = 0.012 and P = 0.002, respectively) The risk of allele OTVP was high (OR = 1.733, 95% CI: 1.218-2.466). There was no significant difference in genotype distribution among children in OTVP group (P = 0.088) There was significant difference between the two indexes (P = 0.029 and P = 0.019, respectively). Conclusion The Arg389Gly polymorphism of β1-AR gene is associated with the incidence of OTVP in Chinese Han children. The Arg allele is a risk factor. The Arg / Arg genotype may be a predisposing factor for OTVP patients with high early load and non-continuous VT.