Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease.

ABSTRACT:

Background

Congenital heart disease (CHD) occurs in almost 1% of newborn children and is considered a multifactorial disorder. CHD may segregate in families due to significant contribution of genetic factors in the disease etiology. The aim of the study was to identify pathophysiological mechanisms in families segregating CHD.

Methods

We used whole exome sequencing to identify rare genetic variants in ninety consenting participants from 32 Danish families with recurrent CHD. We applied a systems biology approach to identify developmental mechanisms influenced by accumulation of rare variants. We used an independent cohort of 714 CHD cases and 4922 controls for replication and performed functional investigations using zebrafish as in vivo model.

Results

We identified 1

SUBMITTER: Izarzugaza JMG 

PROVIDER: S-EPMC7453558 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature