Identification and functional analysis of variants of MYH6 gene promoter in isolated ventricular septal defects.

ABSTRACT:

Background

Ventricular septal defect is the most common form of congenital heart diseases. MYH6 gene has a critical effect on the growth and development of the heart but the variants in the promoter of MYH6 is unknown.

Patients and methods

In 604 of the subjects (311 isolated and sporadic ventricular septal defect patients and 293 healthy controls), DNA was extracted from blood samples and MYH6 gene promoter region variants were analyzed by sequencing. Further functional verification was performed by cellular experiments using dual luciferase reporter gene analysis, electrophoretic mobility shift assays, and bioinformatics analysis.

Results

Nine variants were identified in the MYH6 gene promoter and two of those variants [g.4085G>C(rs1222539675) and g.4716G>A(rs377648

SUBMITTER: Zuo JY 

PROVIDER: S-EPMC9548206 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature