Analysis of β1 and β2-adrenergic receptors polymorphism in patients with apical ballooning cardiomyopathy

Objective The aim of our study was to analyse the frequency of beta 1 and/or beta 2 adrenergic receptor polymorphisms in patients with takotsubo cardiomyopathy (TTC). Methods and results beta 1 and/or beta 2 adrenergic receptor polymorphisms in 61 patients with TTC were compared with 109 controls. The beta 1 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 beta 2 adrenoreceptor amino acid position 27 genotype was significantly different and assuming a recessive model for the allelic variant coding for Gin on this position, the odds ratio was 0.29, 95% Cl 0.12-0.74 (P = 0.009). Conclusions This study showed for the first time an association between TTC phenotype and beta 1 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.