Identification of Genetic Variants Associated with Severe Myocardial Bridging through Whole-Exome Sequencing.

ABSTRACT: Myocardial bridging (MB) is a congenital coronary artery anomaly and an important cause of angina. The genetic basis of MB is currently unknown. This study used a whole-exome sequencing technique and analyzed genotypic differences. Eight coronary angiography-confirmed cases of severe MB and eight age- and sex-matched control patients were investigated. In total, 139 rare variants that are potentially pathogenic for severe MB were identified in 132 genes. Genes with multiple rare variants or co-predicted by ClinVar and CADD/REVEL for severe MB were collected, from which heart-specific genes were selected under the guidance of tissue expression levels. Functional annotation indicated significant genetic associations with abnormal skeletal muscle mass, cardiomyopathies, and transmembrane ion

SUBMITTER: Yang TL 

PROVIDER: S-EPMC10608235 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature