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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 , Haiyong Gu , Yu Jian Zhang , Jie Gong , Yu Nie , Jue Wang , Hui Zhang , Ruiping Liu , Shengshou Hu and Hao Zhang EMAIL logo
Published/Copyright: February 4, 2012
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Clinical Chemistry and Laboratory Medicine
From the journal Clinical Chemistry and Laboratory Medicine Volume 50 Issue 8

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
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: 2012-1-9
Published Online: 2012-02-04
Published in Print: 2012-08-01

©2012 by Walter de Gruyter Berlin Boston

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https://doi.org/10.1515/cclm-2011-0759
Keywords for this article
congenital heart disease; genetic polymorphisms; MTHFR; RFC

Articles in the same Issue

  1. Masthead
  2. Masthead
  3. Editorial
  4. EDTA-dependent pseudothrombocytopenia: further insights and recommendations for prevention of a clinically threatening artifact
  5. Reviews
  6. Mitochondria as sources and targets of damage in cellular aging
  7. Application of matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) in Alzheimer’s disease
  8. Opinion Papers
  9. The intellectual contribution of laboratory medicine professionals to research papers on laboratory medicine topics published in high-impact general medicine journals
  10. Laboratory medicine and sports: between Scylla and Charybdis
  11. Guidelines and Recommendations
  12. The EC4 European Syllabus for Post-Graduate Training in Clinical Chemistry and Laboratory Medicine: version 4 – 2012
  13. Genetics And Molecular Diagnostics
  14. Assessing the utility of whole genome amplified DNA as a template for DMET Plus array
  15. General Clinical Chemistry And Laboratory Medicine
  16. Effect of acceleration forces during transport through a pneumatic tube system on ROTEM® analysis
  17. The transferrin/log(ferritin) ratio: a new tool for the diagnosis of iron deficiency anemia
  18. Instructions on laboratory monitoring in 200 drug labels
  19. Lipid peroxidation markers in Crohn’s disease: the associations and diagnostic value
  20. Impact of asthmatic control status on serum cystatin C concentrations
  21. Elevated levels of Nɛ-homocysteinyl-lysine isopeptide in patients on long-term hemodialysis
  22. Interleukin-1α gene variants influence bone mineral density and the risk of osteoporotic hip fractures in elderly Slovenian people
  23. Novel method to dissociate platelet clumps in EDTA-dependent pseudothrombocytopenia based on the pathophysiological mechanism
  24. Proficiency testing/external quality assurance for the PFA-100®
  25. Interference of selected flavonoid aglycons in platelet aggregation assays
  26. Infectious Diseases
  27. Monocyte chemoattractant protein-1 and paraoxonase-1 and 3 levels in patients with sepsis treated in an intensive care unit: a preliminary report
  28. Association between ischemia-modified albumin, homocysteine, vitamin B12 and folic acid in patients with severe sepsis
  29. Evidence for serum miR-15a and miR-16 levels as biomarkers that distinguish sepsis from systemic inflammatory response syndrome in human subjects
  30. The predictive value of immature granulocyte count and immature myeloid information in the diagnosis of neonatal sepsis
  31. Hypophosphatemia, fever and prolonged length of hospital stay in seronegative PCR positive patients as compared to seropositive patients with early acute Q fever pneumonia
  32. Cancer Diagnostics
  33. Diagnostic value of HE4 for ovarian cancer: a meta-analysis
  34. Cardiovascular Diseases
  35. Reactive oxygen metabolites (ROMs) are associated with cardiovascular disease in chronic hemodialysis patients
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  37. Oxidative stress as a predictor of cardiovascular events in coronary artery disease patients
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  43. 56th National Congress of the Hungarian Society of Laboratory Medicine
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