A genome-wide association study of obstructive heart defects among participants in the National Birth Defects Prevention Study.

ABSTRACT: Obstructive heart defects (OHDs) share common structural lesions in arteries and cardiac valves, accounting for ~25% of all congenital heart defects. OHDs are highly heritable, resulting from interplay among maternal exposures, genetic susceptibilities, and epigenetic phenomena. A genome-wide association study was conducted in National Birth Defects Prevention Study participants (N_discovery  = 3978; N_replication  = 2507), investigating the genetic architecture of OHDs using transmission/disequilibrium tests (TDT) in complete case-parental trios (N_{discovery_TDT}  = 440; N_{replication_TDT}  = 275) and case-control analyses separately in infants (N_{discovery_CCI}  = 1635; N_{replication_CCI}  = 990) and mothers (case status defined by

SUBMITTER: Rashkin SR 

PROVIDER: S-EPMC9283270 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature