Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects.

ABSTRACT:

Background

Maternal and inherited (ie, case) genetic factors likely contribute to the pathogenesis of congenital heart defects, but it is unclear whether individual common variants confer a large risk.

Methods and results

To evaluate the relationship between individual common maternal/inherited genotypes and risk for heart defects, we conducted genome-wide association studies in 5 cohorts. Three cohorts were recruited at the Children's Hospital of Philadelphia: 670 conotruncal heart defect (CTD) case-parent trios, 317 left ventricular obstructive tract defect (LVOTD) case-parent trios, and 406 CTD cases (n=406) and 2976 pediatric controls. Two cohorts were recruited through the Pediatric Cardiac Genomics Consortium: 355 CTD trios and 192 LVOTD trios. We also conducted meta-a

SUBMITTER: Agopian AJ 

PROVIDER: S-EPMC5539991 | biostudies-literature | 2017 Jun

REPOSITORIES: biostudies-literature