Molecular Biology Reports

, Volume 41, Issue 3, pp 1763–1770 | Cite as

Polymorphisms of VEGF, TGFβ1, TGFβR2 and conotruncal heart defects in a Chinese population

  • Enshi Wang
  • Zhenhua Wang
  • Shenghua Liu
  • Haiyong Gu
  • Dingxu Gong
  • Kun Hua
  • Yu Nie
  • Jue Wang
  • Haoran Wang
  • Jie Gong
  • YuJian Zhang
  • Hui Zhang
  • Ruiping Liu
  • Shengshou Hu
  • Hao Zhang


Genetic variants may determine susceptibility of congenital heart disease (CHD). To evaluate the impact of transforming growth factor-β1 (TGFβ1), TGFβ receptor II (TGFβR2) and vascular endothelial growth factor (VEGF) polymorphisms on conotruncal heart defects susceptibility, we genotyped six functional polymorphisms TGFβ1 rs1800469 C>T, TGFβR2 rs3087465 G>A, VEGF −2578C>A, −1498T>C, −634G>C and +936C>T in a hospital based case–control study of 244 conotruncal heart defects cases and 136 non-CHD controls in a Chinese population. Logistic regression analyses revealed that if the TGFβ1 rs1800469 CC homozygote genotype was used as the reference group, subjects carrying the CT variant heterozygote had a significant 0.48-fold decreased risk of conotruncal heart defects [odds ratio (OR) = 0.52; 95 % confidence interval (CI) = 0.30–0.88], subjects carrying the TT variant homozygote had a significant 0.47-fold decreased risk of conotruncal heart defects (OR 0.53; 95 % CI 0.28–1.00). In stratification analyses, the TGFβ1 rs1800469 C>T genotype was associated with a decreased risk for tetralogy of fallot in homozygote comparisons (OR 0.47; 95 % CI 0.22–0.99), a decreased risk for transposition of great artery in the dominant genetic model (OR 0.49; 95 % CI 0.28–0.87) and heterozygote comparisons (OR 0.45; 95 % CI 0.24–0.83). Our findings suggest that TGFβ1 rs1800469 C>T polymorphism was significantly associated with decreased risk of conotruncal heart defects. TGFβR2 rs3087465 G>A, VEGF −2578C>A, −1498T>C, −634G>C and +936C>T polymorphisms may not play a role in the susceptibility of conotruncal heart defects.


VEGF TGFβ1 TGFβR2 Polymorphisms Congenital heart disease Susceptibility 



Confidential interval


Congenital heart disease


Endocardial cushion


Endocardium transform to mesenchyme


Linkage disequilibrium


Odds ratio


Single nucleotide polymorphisms


Vascular endothelial growth factor



This study was supported by the Major National Basic Research Program in the People’s Republic of China (Program 973, 2010CB529508), the National Natural Science Foundation of China (30900630), China Postdoctoral Science Special Foundation (2012T50066, 2012M510353), Peking Union Medical College Postdoctoral Foundation (2011-XH6), the Jiangsu Province Health Department Program Grant (H201046) and the Jiangsu Province Natural Science Foundation (BK2009207, BK2009209).

Conflict of interest



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Copyright information

© Springer Science+Business Media Dordrecht 2014

Authors and Affiliations

  • Enshi Wang
    • 1
  • Zhenhua Wang
    • 1
  • Shenghua Liu
    • 1
  • Haiyong Gu
    • 1
    • 2
  • Dingxu Gong
    • 1
  • Kun Hua
    • 1
  • Yu Nie
    • 1
  • Jue Wang
    • 1
  • Haoran Wang
    • 1
  • Jie Gong
    • 3
  • YuJian Zhang
    • 4
  • Hui Zhang
    • 5
  • Ruiping Liu
    • 5
  • Shengshou Hu
    • 1
    • 6
  • Hao Zhang
    • 1
  1. 1.State Key Laboratory of Cardiovascular Disease, Fuwai Hospital & Cardiovascular Institute, Chinese Academy of Medical SciencePeking Union Medical CollegeBeijingChina
  2. 2.Department of Cardiothoracic SurgeryAffiliated People’s Hospital of Jiangsu UniversityZhenjiangChina
  3. 3.Division of Cardiology, Department of MedicineAffiliated Hospital of Jiangsu UniversityZhenjiangChina
  4. 4.Department of Anesthesiology1st Affiliated Hospital, Wenzhou Medical CollegeWenzhouChina
  5. 5.Central Laboratory, Affiliated Hospital of Nanjing Medical UniversityChangzhou Second People’s HospitalChangzhouChina
  6. 6.Research Center for Cardiovascular Regenerative MedicineFuwai HospitalBeijingChina

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