Research progress of transcription factor HAND1 gene polymorphism in cardiovascular disease
Teng Zhen1, Yan Bo2
1College of Clinical Medicine, Jining Medical University, Jining 272013, China; 2Institute of Precision Medicine, Jining Medical University, Jining 272067, China
Abstract：The basic helix-loop-helix (bHLH) transcription factor family is a large family of transcription factors with a basic helix-loop-helix structure. Members of the bHLH family play an important role in the growth and development of organisms. Transcription factor heart and neural crest derivatives expressed 1(HAND1) is a member of the bHLH family and is essential for heart development. HAND1 gene mutations are linked to the occurrence of congenital heart disease, cardiomyopathy, cardiac conduction system, and other cardiovascular diseases. Loss of HAND1 gene expression results in ventricular septal defect, atrioventricular valve malformation, double outlet right ventricular and so on. Overexpression of the HAND1 gene causes a defect in left ventricular development and an increased susceptibility to arrhythmia. The author primarily summarizes the progress of transcription factor HAND1 research in congenital heart disease, cardiomyopathy, cardiac conduction system, and other cardiovascular diseases, in order to aid in the early detection and treatment of cardiovascular disease.
