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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 2017: 3.556

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1437-4331
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Volume 49, Issue 12

Issues

Methylenetetrahydrofolate reductase C677T polymorphism and congenital heart disease: a meta-analysis

Yu Nie
  • State Key Laboratory of Translational Cardiovascular Medicine, Cardiovascular Institute and Fuwai Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, P.R. China
  • Yu Nie and Haiyong Gu contributed equally to this work.
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Haiyong Gu
  • State Key Laboratory of Translational Cardiovascular Medicine, Cardiovascular Institute and Fuwai Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, P.R. China
  • Yu Nie and Haiyong Gu contributed equally to this work.
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Jie Gong
  • Division of Cardiology, Department of Medicine, The Affiliated Hospital of Jiangsu University, Zhenjiang, P.R. China
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Jue Wang
  • State Key Laboratory of Translational Cardiovascular Medicine, Cardiovascular Institute and Fuwai Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, P.R. China
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Dingxu Gong
  • State Key Laboratory of Translational Cardiovascular Medicine, Cardiovascular Institute and Fuwai Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, P.R. China
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Xiangfeng Cong
  • State Key Laboratory of Translational Cardiovascular Medicine, Cardiovascular Institute and Fuwai Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, P.R. China
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  • De Gruyter OnlineGoogle Scholar
/ Xi Chen
  • State Key Laboratory of Translational Cardiovascular Medicine, Cardiovascular Institute and Fuwai Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, P.R. China
  • Email
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/ Shengshou Hu
  • State Key Laboratory of Translational Cardiovascular Medicine, Cardiovascular Institute and Fuwai Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, P.R. China
  • Email
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Published Online: 2011-07-28 | DOI: https://doi.org/10.1515/CCLM.2011.673

Abstract

Background: As a key enzyme in folate metabolism, 5,10-methylenetetrahydrofolate reductase (MTHFR) regulates the homeostasis between DNA synthesis and methylation. Data on the association between the MTHFR C677T polymorphism and congenital heart disease (CHD) are conflicting.

Methods: To assess the relationship between the MTHFR 677TT genotype and the risk of CHD, we performed a meta-analysis, searching in Pubmed for studies on this topic published in the English language up to 1 December 2010. For each study, we calculated odds ratios (ORs) and 95% confidence intervals (CIs), assuming frequency of allele comparison, homozygote comparison, dominant, and recessive genetic models. We then calculated pooled ORs and 95% CIs. Thirteen studies were included in the meta-analysis.

Results: The MTHFR T allele was associated with a border-line significantly increased risk of CHD in the frequency of allele comparison (T vs. C: OR=1.160; 95% CI=0.990–1.359; p=0.001 for heterogeneity). The MTHFR TT genotype was not associated with the risk of CHD in the homozygote comparison (TT vs. CC: OR=1.272; 95% CI=0.947–1.707; p=0.028 for heterogeneity), the dominant genetic model (TT+CT vs. CC: OR=1.127; 95% CI=0.937–1.355; p=0.034 for heterogeneity) and the recessive genetic model (TT vs. CT+CC: OR=1.272; 95% CI=0.975–1.659; p=0.030 for heterogeneity). However, a stratification analysis showed that the association between the MTHFR C677T polymorphism and the risk of CHD was evident among Caucasians instead of Asians.

Conclusions: Our meta-analysis suggests that genotypes for the MTHFR C677T polymorphism might be associated with the risk of CHD among Caucasians.

Keywords: congenital heart disease; genetic polymorphisms; meta-analysis; methylenetetrahydrofolate reductase (MTHFR)

About the article

Corresponding authors: Dr. Shengshou Hu and Dr. Xi Chen, State Key Laboratory of Translational Cardiovascular Medicine, Fuwai Hospital, 167 Beishilu Street, Beijing, 100037, P.R. China Phone: +86-010-88398359, Fax: +86-010-88396050


Received: 2011-01-19

Accepted: 2011-06-24

Published Online: 2011-07-28

Published in Print: 2011-12-01


Citation Information: Clinical Chemistry and Laboratory Medicine (CCLM), Volume 49, Issue 12, Pages 2101–2108, ISSN (Online) 1437-4331, ISSN (Print) 1434-6621, DOI: https://doi.org/10.1515/CCLM.2011.673.

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