Auxilin is a novel susceptibility gene for congenital heart block which directly impacts fetal heart function.

ABSTRACT:

Objective

Neonatal lupus erythematosus (NLE) may develop after transplacental transfer of maternal autoantibodies with cardiac manifestations (congenital heart block, CHB) including atrioventricular block, atrial and ventricular arrhythmias, and cardiomyopathies. The association with anti-Ro/SSA antibodies is well established, but a recurrence rate of only 12%-16% despite persisting maternal autoantibodies suggests that additional factors are required for CHB development. Here, we identify fetal genetic variants conferring risk of CHB and elucidate their effects on cardiac function.

Methods

A genome-wide association study was performed in families with at least one case of CHB. Gene expression was analysed by microarrays, RNA sequencing and PCR and protein expression by west

SUBMITTER: Meisgen S 

PROVIDER: S-EPMC9279836 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature