The most frequent c.239A>G SNP of NKX2.5 is not involved in Congenital Heart Disease

Abstract

Congenital Heart Disease (CHD) is the most developmental errors in humans, affecting 8 out of 1000 newborns. Cardiac Septal Defects (CSD) constitute the majority of CHD, however, the etiology of CSD remains unclear. About 85 Single Nucleotide Polymorphisms (SNPs) of NKX2.5 have been associated with various forms of CHD. A total of 150 CHD patients and 70 controls were screened for NKX2.5 SNPs by PCR amplification and direct sequencing, as well as Mass array techniques. The sequence analysis was done by using Accelerys gene software. In this study, six SNPs, c.239A>G (48.66%), c.608A>G (0.6%), c.646C>T (25.33%), c.852G>A (3%), c.896C>A (0.6%) and 1212G>T (40%) were identified, of which c.239A>G was the most frequent in both cases and controls. The SNP c.239A>G (rs2277923), leads into synonymous change of glutamine, in turn, the effect is neutral, thereby its frequency is almost equal in both controls and cases. Therefore, this SNP is not involved in the manifestation of CHD.