Transforming growth factor beta receptor 2 (TGFBR2) plays a central role in normal heart development, and we investigated whether TGFBR2 polymorphism confers the risk of congenital ventricular septal defect (CVSD). The case-control study included 115 CVSD children and 188 healthy children in a Chinese population. TGFBR2 rs6785358 polymorphism was genotyped with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Enzyme-linked immunoassay (ELISA) was used to detect serum TGFBR2 levels. The genotype and allele frequency of TGFBR2 rs6785358 were significantly higher in the CVSD group than in the controls (all P < 0.05). The G allele carriers were associated with increased CVSD risk compared with the A allele carriers in CVSD group (OR 3.503, 95 % CI 2.670-4.596). Stratified analysis by gender revealed that the TGFBR2 rs6785358 genotype and allele frequency were significantly different between the CVSD case and controls, in both the male subgroup and the female subgroup (all P < 0.001). The G allele carriers were more susceptible to CVSD risk than the A allele carriers in both the male subgroup (OR 9.096, 95 % CI 5.398-15.33) and the female subgroup (OR 3.148, 95 % CI 1.764-5.618). Logistic regression analysis revealed that age, gender and genotype were associated with the risk of CVSD (all P < 0.05). The study findings revealed that TGFBR2 rs6785358 polymorphism contributes to CVSD susceptibility, and the G allele may increase the risk of CVSD.
Keywords: Congenital heart disease; Congenital ventricular septal defect; Endothelial–mesenchymal transformation; Polymorphism; Transforming growth factor beta receptor 2.