Key result
The presence of one or two L41 alleles of the GRK5 gene was significantly more frequent in patients with Takotsubo cardiomyopathy compared to healthy controls (40% vs 8%, P=0.0372).
Why the study?
Is the L41Q polymorphism of the GRK5 gene associated with genetic susceptibility to Takotsubo cardiomyopathy?
Case-Control (n=42)
Yes
Is the L41Q polymorphism of the GRK5 gene associated with genetic susceptibility to Takotsubo cardiomyopathy?
The L41Q polymorphism of the GRK5 gene is significantly more frequent in patients with Takotsubo cardiomyopathy, suggesting a potential genetic predisposition to the syndrome.
Answers are grounded in this paper and cite their sources.
L41 allele carriage was associated with Takotsubo cardiomyopathy; hypothesis-generating for genetic susceptibility and requires validation before any clinical use.
BACKGROUND: Takotsubo cardiomyopathy (TTC) is an increasingly reported clinical syndrome that mimics acute myocardial infarction without obstructive coronary artery disease and is characterized by transient systolic dysfunction of the apical and/or mid-segments of the left ventricle. The syndrome mainly occurs in postmenopausal women with high adrenergic state conditions. Nowadays, the pathophysiology of TTC is not yet known and the possibility of a genetic predisposition is controversial. AIMS: The purpose of this study was to assess the genetic susceptibility to TTC through analysis of the L41Q polymorphism of the G-protein-coupled receptor kinase 5 (GRK5). METHODS AND RESULTS: In a cohort of 20 patients enrolled in two tertiary Italian centers with diagnosis of TTC, accordingly to the commonly accepted Mayo Clinic criteria and in 22 healthy individuals (control) we have evaluated the polymorphism in GRK5 gene. The TTC patients had a mean age of 65 ± 9 years and 19 of 20 were women. The presence of one or two L41 alleles of GRK5 was significantly more frequent in TTC group than in the control group (40 vs. 8%, P = 0.0372). CONCLUSION: In our study, we have found a significant difference in the frequency of GRK5 polymorphism between TTC patients and controls, supporting a genetic predisposition to this cardiac syndrome.
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Novo et al. (2014) conducted a case-control in Takotsubo cardiomyopathy (n=42). L41Q polymorphism of the G-protein-coupled receptor kinase 5 (GRK5) vs. Healthy controls was evaluated on Presence of one or two L41 alleles of GRK5 (p=0.0372). The presence of one or two L41 alleles of the GRK5 gene was significantly more frequent in patients with Takotsubo cardiomyopathy compared to healthy controls (40% vs 8%, P=0.0372).
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