Association Of Gata4 Gene Polymorphism With Ventricular Septal Defect In Northwest Chinese Population

Background:Ventricular septal defect (VSD) is one of the most common types of congenital heart defects (CHDs) with a high morbidity rate. Recently it was reported that mutations in GATA4 gene can lead to CHDs like VSD. In this study we aimed to investigate two GATA4 single-nucleotide polymorphisms (SNPs) in the 3'-untranslated region (3'-UTR) for their associations with VSD in northwest Chinese population.Methods:Unlabeled probes were used to genotype two GATA4 SNPs in a case-control study from northwest Chinese population, including 203 patients with VSD and 201 healthy controls. The frequencies of genotype and haplotype effects were analyzed by chi-square and haplotype analysis between the VSD and control group.Results:Compared with the homozygous G genotype, the heterozygous G/T genotype of SNP rs867858 (G/T) was at a significantly increased risk of odds ratio (OR) of 1.879 [95%Confidence interval (95%CI):1.173-3.010, p=0.008]. For SNP rs904018 (A/G), the homozygous G genotype appeared to reduce risk of VSD (OR=0.491,95%CI: 0.254-0.948, p=0.032) and the G allele of rs904018 might be a weak protective factor (OR=0.727,95%CI:0.540-0.979, p=0.036). Haplotype rs867858 G/rs904018 G presented lower risk of VSD in patients than the controls (OR=0.748,95%CI: 0.567-0.986, p=0.039).Conclusions:This is the first report that evaluates the effects of genetic polymorphisms in 3'-UTR of GATA4 as a predisposition factor for VSD in Chinese population using an unlabeled probe assay. Our results suggest that the polymorphisms of rs867858 and rs904018 of GATA4 gene may be associated to VSD in northwest Chinese population. And genotyping by unlabeled probes is simple, fast and inexpensive method.