Key result
No KCNQ1 promoter mutations were identified in patients with cardiac arrhythmia, although clinical factors such as diabetes mellitus (RR 3.05) and smoking (RR 2.78) were significant risk factors.
Why the study?
Mutations in genes encoding the cardiac delayed rectifier potassium channel contribute to long QT syndrome and arrhythmia, but the association between KCNQ1 promoter polymorphism, clinical characteristics, and cardiac arrhythmia in the Bushehr population required exploration.
Are KCNQ1 promoter mutations or clinical risk factors associated with cardiac arrhythmia in the Bushehr population?
Case-Control (n=80)
Yes
Are KCNQ1 promoter mutations or clinical risk factors associated with cardiac arrhythmia in the Bushehr population?
In a southern Iranian population, KCNQ1 promoter mutations were not associated with cardiac arrhythmia, but traditional risk factors like diabetes and smoking were significant contributors.
Answers are grounded in this paper and cite their sources.
KCNQ1 promoter mutations unlikely in arrhythmia; supports targeting diabetes and smoking while leaving genetic roles open for study.
Objective:Many studies report that mutation in genes which encode the cardiac delayed rectifier potassium channel, such as KCNQ1, contributes to the long QT interval syndrome followed by cardiac arrhythmia.Goal of this case-control study is to explore the potential association between KCNQ1 gene promoter polymorphism and clinical Characteristics with cardiac arrhythmia in Bushehr population. Methods:Clinical data, previous medical history, and blood samples were collected from 30 admitted patients in Bushehr hospitals with cardiac arrhythmia and matched healthy individuals as controls. The genetic variation of the promoter region of KCNQ1 was carried out by using single-strand conformational polymorphism (SSCP) analysis. Results: NO mutation or polymorphism was identified in the promoter region of the KCNQ1 gene, but, the incidence rate of some cardiac disease risk factors, including diabetes mellitus, cigarette smoking, gender and age were significantly higher in the patients with cardiac arrhythmia. Conclusions: The lack of mutation even in patients with a positive family history of cardiac arrhythmia revealed that mutation in the KCNQ1 gene might be not responsible for cardiac arrhythmia in the patients. But some clinical data, including diabetic mellitus, smoking habits, age and gender were the significant risk factors in patients with cardiac arrhythmia.
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Bazrafshan et al. (2020) conducted a case-control in Cardiac arrhythmia with prolonged QT interval (n=80). KCNQ1 promoter mutation and clinical risk factors vs. Healthy controls without cardiac arrhythmia was evaluated on Presence of KCNQ1 promoter mutation or polymorphism. No KCNQ1 promoter mutations were identified in patients with cardiac arrhythmia, although clinical factors such as diabetes mellitus (RR 3.05) and smoking (RR 2.78) were significant risk factors.
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