Vriz Olga, Minisini Rosalba, Citro Rodolfo, Guerra Valentina, Zito Concetta, De Luca Giuseppe, Pavan Daniela, Pirisi Mario, Limongelli Giuseppe, Bossone Eduardo
Cardiologia, O.C. San Antonio, San Daniele del Friuli, Udine, Italy.
Acta Cardiol. 2011 Dec;66(6):787-90. doi: 10.1080/ac.66.6.2136964.
The aim of our study was to analyse the frequency of beta1 and/or beta2 adrenergic receptor polymorphisms in patients with takotsubo cardiomyopathy (TTC).
beta1 and/or beta2 adrenergic receptor polymorphisms in 61 patients with TTC were compared with 109 controls. The beta1 adrenoreceptor (amino acid position 389) genotype frequencies were significantly different in the two groups; assuming a recessive model for the allelic variant coding for Arg on this position, the odds ratio was 3.14, 95% Cl 1.55-6.37 (P = 0.0015). The beta2 adrenoreceptor amino acid position 27 genotype was significantly different and assuming a recessive model for the allelic variant coding for Gln on this position, the odds ratio was 0.29, 95% Cl 0.12-0.74 (P = 0.009).
This study showed for the first time an association between TTC phenotype and beta1 adrenoreceptor gene polymorphisms. Beta adrenoreceptors gene polymorphisms are probably disease modifiers, and any risk estimate should be based on a combination of genotypes and on interactions with other genes and environmental features.
我们研究的目的是分析应激性心肌病（TTC）患者中β1和/或β2肾上腺素能受体多态性的频率。
将61例TTC患者的β1和/或β2肾上腺素能受体多态性与109例对照进行比较。两组中β1肾上腺素能受体（氨基酸位置389）的基因型频率有显著差异；假设该位置编码精氨酸的等位基因变异呈隐性模型，比值比为3.14，95%可信区间为1.55 - 6.37（P = 0.0015）。β2肾上腺素能受体氨基酸位置27的基因型有显著差异，假设该位置编码谷氨酰胺的等位基因变异呈隐性模型，比值比为0.29，95%可信区间为0.12 - 0.74（P = 0.009）。
本研究首次表明TTC表型与β1肾上腺素能受体基因多态性之间存在关联。β肾上腺素能受体基因多态性可能是疾病修饰因子，任何风险评估都应基于基因型的组合以及与其他基因和环境特征的相互作用。
