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Clinical Chemistry and Laboratory Medicine (CCLM)

Published in Association with the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM)

Editor-in-Chief: Plebani, Mario

Ed. by Gillery, Philippe / Lackner, Karl J. / Lippi, Giuseppe / Melichar, Bohuslav / Payne, Deborah A. / Schlattmann, Peter / Tate, Jillian R.

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IMPACT FACTOR 2016: 3.432

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1437-4331
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Volume 50, Issue 8 (Aug 2012)

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Methylenetetrahydrofolate reductase C677T and reduced folate carrier 80 G>A polymorphisms are associated with an increased risk of conotruncal heart defects

Dingxu Gong
  • State Key Laboratory of Cardiovascular Disease, Cardiovascular Institute and Fuwai Hospital, Chinese Academy of Medical Science, Peking Union Medical College, Beijing, P.R. China
  • Other articles by this author:
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/ Haiyong Gu
  • State Key Laboratory of Cardiovascular Disease, Cardiovascular Institute and Fuwai Hospital, Chinese Academy of Medical Science, Peking Union Medical College, Beijing, P.R. China
  • Department of Cardiothoracic Surgery, Affiliated People’s Hospital of Jiangsu University, Zhenjiang, P.R. China
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/ Yu Jian Zhang
  • Department of Anesthesiology, 1st Affiliated Hospital, Wenzhou Medical College, Wenzhou, P.R. China
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/ Jie Gong
  • Division of Cardiology, Department of Medicine, Affiliated Hospital of Jiangsu University, Zhenjiang, P.R. China
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/ Yu Nie
  • State Key Laboratory of Cardiovascular Disease, Cardiovascular Institute and Fuwai Hospital, Chinese Academy of Medical Science, Peking Union Medical College, Beijing, P.R. China
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/ Jue Wang
  • State Key Laboratory of Cardiovascular Disease, Cardiovascular Institute and Fuwai Hospital, Chinese Academy of Medical Science, Peking Union Medical College, Beijing, P.R. China
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/ Hui Zhang
  • Central Laboratory, Affiliated Hospital of Nanjing Medical University, Changzhou Second People’s Hospital, Changzhou, P.R. China
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/ Ruiping Liu
  • Central Laboratory, Affiliated Hospital of Nanjing Medical University, Changzhou Second People’s Hospital, Changzhou, P.R. China
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/ Shengshou Hu
  • State Key Laboratory of Cardiovascular Disease, Cardiovascular Institute and Fuwai Hospital, Chinese Academy of Medical Science, Peking Union Medical College, Beijing, P.R. China
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/ Hao Zhang
  • Corresponding author
  • State Key Laboratory of Cardiovascular Translational Medicine, Department of Surgery, Research Center for Cardiac Regenerative Medicine, Cardiovascular Institute and Fuwai Hospital, Chinese Academy of Medical Sciences, Beijing, P.R. China
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Published Online: 2012-02-04 | DOI: https://doi.org/10.1515/cclm-2011-0759

Abstract

Background: Folic acid has an important role during embryologic development, particularly the development of the cardiovascular system.

Methods: We analyzed the involvement of eight polymorphisms in genes related to folic-acid metabolism, 5,10-methylenetetrahydrofolate reductase (MTHFR), methylenetetrahydrofolate dehydrogenase (MTHFD1), transcobalamin (TCN2), reduced folatecarrier(RFC),nicotinamide-N-methyltransferase (NNMT) and natriuretic peptide precursor A (NPPA) as risk factors of conotruncal heart defects.

Results: In single-locus analyses, the genotype frequencies of MTHFR rs1801133 C>T were 18.4% (CC), 50.4% (CT), and 31.1% (TT) in the subjects with conotruncal heart defects and 31.6% (CC), 52.9% (CT), and 15.4% (TT) in control subjects, and the difference was significant (p=0.001). Logistic regression analyses revealed that, if the MTHFR rs1801133 CC homozygote genotype was used as the reference group, subjects carrying the TT variant homozygote had a significant 3.46-fold [odds ratio (OR) 3.46; 95% confidence interval (CI) 1.83–6.55] increased risk of conotruncal heart defects. If the RFC rs1051266 GG homozygote genotype was used as the reference group, subjects carrying the GA variant heterozygote had a significant 1.68-fold (OR 1.68; 95% CI 1.02–2.78) increased risk of conotruncal heart defects. In stratification analyses, the MTHFR rs1801133 C>T genotype was associated with an increased risk for tetralogy of Fallot (TOF) and transposition of great artery (TGA) in homozygote comparisons, the dominant genetic model, and the recessive genetic model. The RFC rs1051266 GA genotype was associated with an increased risk for TGA compared with wild-type homozygotes and, in the dominant genetic model, the RFC rs1051266 GA/AA genotype was also associated with a significantly increased risk of TGA compared with RFC rs1051266 GG genotypes.

Conclusions: These data suggest that genotypes for the MTHFR C677T and RFC rs1051266 polymorphism might be associated with the risk of conotruncal heart defects.

Keywords: congenital heart disease; genetic polymorphisms; MTHFR; RFC

About the article

Corresponding author: Dr. Hao Zhang, Research Center for Cardiovascular Regenerative Medicine, Fuwai Hospital, 167 Beishilu Street, Beijing 100037, P.R. China Phone: +86 010 88398584, Fax: +86 010 88398584


Received: 2011-10-18

Accepted: 2012-01-09

Published Online: 2012-02-04

Published in Print: 2012-08-01


Citation Information: Clinical Chemistry and Laboratory Medicine, ISSN (Online) 1437-4331, ISSN (Print) 1434-6621, DOI: https://doi.org/10.1515/cclm-2011-0759.

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©2012 by Walter de Gruyter Berlin Boston. Copyright Clearance Center

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