The relationships between KCNQ1 promoter mutation and some cardiac disease risk factors with cardiac arrhythmia in the Bushehr population

Bazrafshan, Ameneh; Khatamsaz, Saeed; Sani, Farnaz; Dehghan, Maryam

doi:10.30476/jamsat.2020.46602

The relationships between KCNQ1 promoter mutation and some cardiac disease risk factors with cardiac arrhythmia in the Bushehr population

Document Type : Original Article

Authors

Ameneh Bazrafshan ¹

Saeed Khatamsaz ²

Farnaz Sani ³

Maryam Dehghan ²

¹ Department of Physiology, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran

² Department of Biology, Islamic Azad University, Kazerun Branch, Kazerun, Iran

³ Hematology and cell therapy department, Faculty of medical sciences, Tarbiat Modares university, Tehran,Iran

10.30476/jamsat.2020.46602

Abstract

Abstract
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.

Keywords

KCNQ1

polymorphism

cardiac arrhythmia

cardiac disease risk factors