Identification and functional analysis of genetic variants in TBX5 gene promoter in patients with acute myocardial infarction.

ABSTRACT: BACKGROUND:Coronary artery disease (CAD), including acute myocardial infarction (AMI), is a common complex disease. Although a great number of genetic loci and variants for CAD have been identified, genetic causes and underlying mechanisms remain largely unclear. Epidemiological studies have revealed that CAD incidence is strikingly higher in patients with congenital heart disease than that in normal population. T-box transcription factors play critical roles in embryonic development. In particular, TBX5 as a dosage-sensitive regulator is required for cardiac development and function. Thus, dysregulated TBX5 gene expression may be involved in CAD development. METHODS:TBX5 gene promoter was genetically and functionally analysed in large groups of AMI patients (n = 432) and ethnic-matched he

SUBMITTER: Wang S 

PROVIDER: S-EPMC6880377 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature