Allelic Interaction between <i>CRELD1</i> and <i>VEGFA</i> in the Pathogenesis of Cardiac Atrioventricular Septal Defects.

ABSTRACT: Atrioventricular septal defects (AVSD) are highly heritable, clinically significant congenital heart malformations. Genetic and environmental modifiers of risk are thought to work in unknown combinations to cause AVSD. Approximately 5-10% of simplex AVSD cases carry a missense mutation in CRELD1. However, CRELD1 mutations are not fully penetrant and require interactions with other risk factors to result in AVSD. Vascular endothelial growth factor-A (VEGFA) is a well-characterized modulator of heart valve development. A functional VEGFA polymorphism, VEGFA c.-634C, which causes constitutively increased VEGFA expression, has been associated with cardiac septal defects suggesting it may be a genetic risk factor. To determine if there is an allelic association with

SUBMITTER: Redig JK 

PROVIDER: S-EPMC4200510 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature