Genetic and functional variants of the TBX20 gene promoter in dilated cardiomyopathy.

ABSTRACT:

Background

Dilated cardiomyopathy (DCM) is a major cause of heart failure and sudden cardiac death. As DCM is a genetically heterogeneous disease, genetic variants of cardiac transcription factor genes may play an important role. Transcription factor TBX20, an indispensable factor in normal heart development, is involved in the regulation of cardiac structure and function. Although the TBX20 gene is associated with the occurrence and development of DCM, the influence of genetic variants of the TBX20 gene promoter region on DCM has not been reported.

Methods

We conducted a case-control study consisting of 107 DCM patients and 210 healthy controls. Genetic variants within TBX20 gene promoter region were identified using sequencing techniques and were functionally analyzed by d

SUBMITTER: Gao X 

PROVIDER: S-EPMC10795084 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature