Dr. Jeff Murray
Participation year
Project title

  An Association Study of Candidate Genes and Preterm Infants with Patent Ductus Arteriosus (PDA)


OBJECTIVE. Patent ductus arteriosus is a congenital heart defect that leads to abnormal blood flow between the aorta and the pulmonary artery. The incidence of patent ductus arteriosus increases with decreasing gestational age where up to 76.9% of preterm infants are born at 24 weeks gestation. Our goal was to determine if genetic risk factors play a role in patent ductus arteriosus. METHODOLOGY. We conducted an association study to investigate whether single nucleotide polymorphisms in voltage dependent calcium channel, potassium voltage gated channel and solute carrier family 2 genes were markers associated with the smooth muscle contraction of the ductus arteriosus. In our study, 16 single nucleotide polymorphisms were evaluated in DNA samples collected from a cohort of babies <37 weeks gestation and their parents. DNA from other infants without PDA were also extracted who acted as controls in our study. A family based association test (FBAT) was performed on genotyped data to evaluate the over transmission of alleles. RESULTS. Of our 16 single nucleotide polymorphisms, a p-value of <.01 was seen in 1 gene in the voltage dependent calcium channel. CONCLUSION. Studies have shown that both environmental and genetic risk factors play a role in patent ductus arteriosus. Further analysis is yet to be done in our study to analyze whether genetic variations in the genes analyzed are associated with the persistent patency of the ductus arteriosus in preterm infants.

University of Virgin Islands