β1和β2肾上腺素能受体基因多态性在心力衰竭中的作用：一项病例对照研究。
Role of beta1- and beta2-adrenoceptor polymorphisms in heart failure: a case-control study.
作者信息
Covolo Loredana, Gelatti Umberto, Metra Marco, Nodari Savina, Piccichè Antonio, Pezzali Natalia, Zani Claudia, Alberti Adriana, Donato Francesco, Nardi Giuseppe, Dei Cas Livio
机构信息
Cattedra di Igiene, Università di Brescia, Italy.
出版信息
Eur Heart J. 2004 Sep;25(17):1534-41. doi: 10.1016/j.ehj.2004.06.015.
BACKGROUND
We hypothesised that the polymorphisms of the genes encoding for beta1- and the beta2-adrenoceptors may have a role in the pathogenesis of heart failure (HF). We therefore compared the polymorphisms of the beta1-adrenoceptor gene (Arg389Gly), the beta2-adrenoceptor gene (Arg16Gly, Gln27Glu) and their combinations in patients with HF and normal subjects living in the same area.
METHODS AND RESULTS
A total of 256 cases with HF (left ventricular ejection fraction < or = 40%) and 230 normal subjects were enrolled. The beta1- and beta2-adrenoceptor gene polymorphisms were assessed by PCR, followed by restriction enzyme digestion. No differences were observed in the distribution of any of the three genotypes studied in patients with HF and normal subjects. An analysis of the genotype combinations showed a non-significant increase in the risk of HF associated with the Arg389Gly16Gln27 (odds ratio = 1.4; 95%CI 0.5-3.6) and Arg389Gly16 Glu27 (odds ratio = 1.2; 95%CI, 0.5-2.8) homozygous allele combinations.
CONCLUSION
None of the three most common polymorphisms of beta-adrenoreceptors are associated with an increased risk of HF.
背景
我们推测，编码β1-和β2-肾上腺素能受体的基因多态性可能在心力衰竭（HF）的发病机制中起作用。因此，我们比较了心力衰竭患者与居住在同一地区的正常受试者中β1-肾上腺素能受体基因（Arg389Gly）、β2-肾上腺素能受体基因（Arg16Gly、Gln27Glu）的多态性及其组合情况。
方法与结果
共纳入256例心力衰竭患者（左心室射血分数≤40%）和230名正常受试者。通过聚合酶链反应（PCR）检测β1-和β2-肾上腺素能受体基因多态性，随后进行限制性内切酶消化。在心力衰竭患者和正常受试者中，所研究的三种基因型的分布均未观察到差异。对基因型组合的分析显示，与Arg389Gly16Gln27（优势比=1.4；95%可信区间0.5 - 3.6）和Arg389Gly16Glu27（优势比=1.2；95%可信区间0.5 - 2.8）纯合等位基因组合相关的心力衰竭风险虽有增加，但无统计学意义。
结论
β-肾上腺素能受体最常见的三种多态性均与心力衰竭风险增加无关。
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