Polymorphisms of VEGF and congenital heart disease in a Chinese population

Spatiotemporal expression pattern of vascular endothelial growth factor (VEGF) are required for proper heart morphogenesis. Genetic variants of VEGF contribute to the production and/or biological activity may determine the risk of congenital heart disease (CHD). To explore the impact of VEGF functional SNPs -2578 C>A, -1498 T>C, -634 G>C, + 936 C>T on the susceptibility of CHD, we genotyped four functional polymorphisms of VEGF (-2578 C>A, -1498 T>C, -634 G>C, + 936 C>T) in a hospital based case-control study of 476 CHD cases and 557 non-CHD controls in a Chinese population. We did not find any significant associations between the four VEGF polymorphisms and the risk of CHD or a certain kind of CHD such as ventricular septal defect (VSD) or tetralogy of Fallot (TOF). However, C-2578 T-1498 G(-634) C+936, C-2578 T-1498 C-634 T+936 and G(-2578) G(-1498) G(-634) T+936 haplotypes were correlated with a significantly increased susceptibility of CHD. The C-2578 T-1498 G(-634) T+936 haplotypes were correlated with a significantly decreased risk of CHD.