The correlation of TGFβ1 gene polymorphisms with congenital heart disease susceptibility

Abstract

ObjectiveThe aim of this study was to investigate the relationship between single nucleotide polymorphisms (SNPs) in transforming growth factor beta 1 (TGFβ1) gene (rs1982073 and rs1800471) and congenital heart disease (CHD) susceptibility. MethodsTotally, 145 CHD patients and 140 healthy controls were enrolled in this case-control study. The case and control groups were matched in age and gender. Genotyping for TGFβ1 gene SNPs rs1982073 and rs1800471 was conducted via polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) approach. Chi-square test was used to analyze the association of TGFβ1 polymorphisms with CHD risk. The results were presented as odds ratios (ORs) and 95% confidence intervals (CIs). ResultsThe frequencies of the CT genotype and T allele of TGFβ1 gene SNP rs1982073 were significantly different between cases and controls (P < 0.05), revealing their associations with reduced susceptibility to CHD (OR = 0.521, 95%CI = 0.302–0.897; OR = 0.706, 95%CI = 0.507–0.983). Nevertheless, TGFβ1 gene SNP rs1800471 had no significant association with CHD susceptibility (P > 0.05). ConclusionTGFβ1 gene SNP rs1982073 might be correlated with CHD susceptibility, and the T allele might decrease the disease risk. However, TGFβ1 gene polymorphism rs1800471 was not related to CHD risk.