Molecular Biology Reports

, Volume 41, Issue 3, pp 1763–1770

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
Article

DOI: 10.1007/s11033-014-3025-9

Cite this article as:
Wang, E., Wang, Z., Liu, S. et al. Mol Biol Rep (2014) 41: 1763. doi:10.1007/s11033-014-3025-9

Abstract

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.

Keywords

VEGFTGFβ1TGFβR2PolymorphismsCongenital heart diseaseSusceptibility

Abbriations

CI

Confidential interval

CHD

Congenital heart disease

EC

Endocardial cushion

EMT

Endocardium transform to mesenchyme

LD

Linkage disequilibrium

OR

Odds ratio

SNPs

Single nucleotide polymorphisms

VEGF

Vascular endothelial growth factor

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