title: VEGF Gene Polymorphisms are Associated with Risk of Tetralogy of Fallot.
abstract: BACKGROUND
  The aim of this study was to investigate associations of 3 common polymorphisms in the VEGF gene, -2578C>A, -634C>G, and 936C>T, with risk of tetralogy of Fallot (TOF) in Chinese Han children.
  
  
  METHODS
  From January 2010 to June 2013, a total of 400 pediatric subjects were recruited, including 160 cases with TOF (TOF group) and 240 healthy controls (control group). The genotypes of 3 common VEGF polymorphisms, -2578C>A, -634C>G, and 936C>T, were analyzed by polymerase chain reaction restriction fragment length polymorphism. All data were analyzed with SPSS 18.0 software.
  
  
  RESULTS
  No significant differences were observed in body mass index or sex between TOF patients and controls (both P>0.05), but significant differences in age and family history of TOF were observed between the 2 groups (both P<0.05). The AA genotype in -2578C>A of VEGF was correlated with a significantly increased risk of TOF, and TOF risk in A allele carrier was 1.54-fold higher than that of C allele carrier (OR=1.54, 95%CI=1.14-2.09, P=0.005); the statistical significance was still present after Bonferroni correction (Pc=0.045). GG genotype in -634C>G of VEGF gene was also associated with an increased risk of TOF, and TOF risk in patients with G allele was 1.62-fold higher compared to patients with C allele (OR=1.62, 95%CI=1.19-2.21, P=0.002); the statistical significance was still present after Bonferroni correction (Pc=0.018). Interestingly, T allele in VEGF 936C>T polymorphism is associated with a decreased TOF risk (OR=0.65, 95%CI=0.49-0.87, P=0.003, the statistical significance was still present after Bonferroni correction (Pc=0.027). The result of logistic regression analysis revealed that -2578C>A, -634C>G, and 936C>T genotypes are independently related to the prevalence of TOF (all P<0.05).
  
  
  CONCLUSIONS
  Our results confirmed that VEGF genetic polymorphisms, -2578C>A and -634C>G, may be associated with an increased TOF risk, while 936C>T polymorphism may be associated with decreased TOF risk.
authors.affiliation: Department of Cardiovascular, Affiliated Hospital of Jining Medical University, Jining, Shandong, China (mainland).
authors.forename: Xiang
authors.initials: X
authors.lastname: Li
authors.affiliation: Department of Cardiovascular, Affiliated Hospital of Jining Medical University, Jining, Shandong, China (mainland).
authors.forename: Chao-Liang
authors.initials: CL
authors.lastname: Liu
authors.affiliation: Department of Pathology, Affiliated Hospital of Jining Medical University, Jining, Shandong, China (mainland).
authors.forename: Xiao-Xia
authors.initials: XX
authors.lastname: Li
authors.affiliation: Department of Cardiovascular, Affiliated Hospital of Jining Medical University, Jining, Jining, Shandong, China (mainland).
authors.forename: Qing-Chen
authors.initials: QC
authors.lastname: Li
authors.affiliation: Department of Cardiovascular, Affiliated Hospital of Jining Medical University, Jining, Jining, Shandong, China (mainland).
authors.forename: Li-Ming
authors.initials: LM
authors.lastname: Ma
authors.affiliation: Department of Cardiovascular, Affiliated Hospital of Jining Medical University, Jining, Jining, Shandong, China (mainland).
authors.forename: Gao-Li
authors.initials: GL
authors.lastname: Liu
mesh_terms: D000483:Alleles; D015415:Biomarkers / Q000097:blood; D002648:Child; D002675:Child, Preschool; D002681:China; D015150:Echocardiography, Doppler; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D007223:Infant; D015810:Linkage Disequilibrium; D008297:Male; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D012984:Software; D013771:Tetralogy of Fallot / Q000097:blood* / Q000000981:diagnostic imaging / Q000235:genetics* / Q000601:surgery; D042461:Vascular Endothelial Growth Factor A / Q000097:blood / Q000235:genetics*
chemical_list: D015415:Biomarkers; C467484:VEGFA protein, human; D042461:Vascular Endothelial Growth Factor A