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Italian Journal of Pediatrics

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Open Access 01-12-2017 | Review

MTHFR A1298C polymorphisms reduce the risk of congenital heart defects: a meta-analysis from 16 case-control studies

Authors: Di Yu, Zhulun Zhuang, Zhongyuan Wen, Xiaodong Zang, Xuming Mo

Published in: Italian Journal of Pediatrics | Issue 1/2017

Abstract

Background

Methylenetetrahydrofolate reductase (MTHFR) plays a crucial role in the hyperhomocysteinemia, which is a risk factor related to the occurrence of congenital heart defect (CHD). However, the association between MTHFR polymorphism and CHD has been inconclusive.

Methods

We conducted an updated meta-analysis to provide comprehensive evidence on the role of MTHFR A1298C polymorphism in CHD. Databases were searched and a total of 16 studies containing 2207 cases and 2364 controls were included.

Results

We detected that a significant association was found in the recessive model (CC vs. AA + AC: OR = 1.38, 95% CI: 1.10–1.73) for the overall population. Subgroup analysis showed that associations were found in patients without Down Syndrome in genetic models for CC vs. AA (OR = 1.47, 95% CI: 1.01–2.14), CC vs. AC (OR = 1.29, 95% CI: 1.00–1.66) and recessive model (OR = 1.44, 95% CI: 1.14–1.82). We conducted a meta-regression analysis, Galbraith plots and a sensitivity analysis to assess the sources of heterogeneity.

Conclusions

In summary, our present meta-analysis supports the MTHFR 1298C allele as a risk factor for CHD. However, further studies should be conducted to investigate the correlation of plasma homocysteine levels, enzyme activity, and periconceptional folic acid supplementation with the risk of CHD.

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Title: MTHFR A1298C polymorphisms reduce the risk of congenital heart defects: a meta-analysis from 16 case-control studies
Authors: Di Yu
Zhulun Zhuang
Zhongyuan Wen
Xiaodong Zang
Xuming Mo
Publication date: 01-12-2017
Publisher: BioMed Central
Published in: Italian Journal of Pediatrics / Issue 1/2017
Electronic ISSN: 1824-7288
DOI: https://doi.org/10.1186/s13052-017-0425-1

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

MTHFR A1298C polymorphisms reduce the risk of congenital heart defects: a meta-analysis from 16 case-control studies

Abstract

Background

Methods

Results

Conclusions

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Abstract

Background

Methods

Results

Conclusions

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