Objective: To assess the association between a tag single nucleotide polymorphism (rs6658835) of transforming growth factor beta 2 (TGF beta2) gene and congenital heart disease (CHD) in Chinese Han population.
Methods: A total of 324 CHD cases including 144 atrial septal defects (ASD), 88 patent ductus arteriosus (PDA), 92 ventricular septal defects (VSD) and 158 healthy controls were enrolled. The genotype of rs6658835 was determined by polymerase chain reaction-restriction fragment length polymorphism assay.
Results: The genotypic and allelic frequencies of rs6658835 were associated with VSD (P< 0.05), but not with ASD or PDA (P> 0.05).
Conclusion: The rs6658835 polymorphism of TGF beta 2 gene is associated with the susceptibility of VSD in Chinese Han population.