LAUSR

OBJECTIVE The 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. METHODS Totally, 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). RESULTS The 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). CONCLUSION TGFβ1 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.