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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 infant; N discovery_CCM = 1703; N replication_CCM = 1078). In the TDT analysis, the SLC44A2 single nucleotide polymorphism (SNP) rs2360743 was significantly John S. Witte and Charlotte A. Hobbs contributed equally to this work.

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