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Maternal Methylenetetrahydrofolate Reductase C677T Polymorphism and Down Syndrome Risk: A Meta-Analysis from 34 Studies

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  • Vandana Rai
  • Upendra Yadav
  • Pradeep Kumar
  • Sushil Kumar Yadav
  • Om Prakesh Mishra

Abstract

Background: Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme of folate metabolic pathway which catalyzes the irreversible conversion of 5, 10-methylenetetrahydrofolate to 5-methyltetrahydrofolate. 5-methyltetrahydrofolate donates methyl group for the methylation of homocysteine to methionine. Several studies have investigated maternal MTHFR C677T polymorphism as a risk factor for DS, but the results were controversial and inconclusive. To come into a conclusive estimate, authors performed a meta-analysis. Aim: A meta-analysis of published case control studies was performed to investigate the association between maternal MTHFR C677T polymorphism and Down syndrome. Methods: PubMed, Google Scholar, Elsevier, Springer Link databases were searched to select the eligible case control studies using appropriate keywords. The pooled odds ratio (OR) with 95%confidence interval were calculated for risk assessment. Results: Thirty four studies with 3,098 DS case mothers and 4,852 control mothers were included in the present meta-analysis. The pooled OR was estimated under five genetic models and significant association was found between maternal MTHFR 677C>T polymorphism and Down syndrome under four genetic models except recessive model (for T vs. C, OR = 1.26, 95% CI = 1.09–1.46, p = 0.001; for TT vs. CC, OR = 1.49, 95% CI = 1.13–1.97, p = 0.008; for CT vs. CC, OR = 1.29, 95% CI = 1.10–1.51, p = 0.001; for TT+CT vs. CC, OR = 1.35, 95% CI = 1.13–1.60, p = 0.0008; for TT vs. CT+CC, OR = 0.76, 95% CI = 0.60–0.94, p = 0.01). Conclusion: The results of the present meta-analysis support that maternal MTHFR C677T polymorphism is a risk factor for DS- affected pregnancy.

Suggested Citation

  • Vandana Rai & Upendra Yadav & Pradeep Kumar & Sushil Kumar Yadav & Om Prakesh Mishra, 2014. "Maternal Methylenetetrahydrofolate Reductase C677T Polymorphism and Down Syndrome Risk: A Meta-Analysis from 34 Studies," PLOS ONE, Public Library of Science, vol. 9(9), pages 1-15, September.
    • Handle: RePEc:plo:pone00:0108552
    DOI: 10.1371/journal.pone.0108552
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    References listed on IDEAS

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    1. Sunaina Yadav & Nazeeha Hasan & Thomas Marjot & Muhammad S Khan & Kameshwar Prasad & Paul Bentley & Pankaj Sharma, 2013. "Detailed Analysis of Gene Polymorphisms Associated with Ischemic Stroke in South Asians," PLOS ONE, Public Library of Science, vol. 8(3), pages 1-8, March.
    2. Ti Zhang & Jiao Lou & Rong Zhong & Jing Wu & Li Zou & Yu Sun & Xuzai Lu & Li Liu & Xiaoping Miao & Guanglian Xiong, 2013. "Genetic Variants in the Folate Pathway and the Risk of Neural Tube Defects: A Meta-Analysis of the Published Literature," PLOS ONE, Public Library of Science, vol. 8(4), pages 1-10, April.
    3. Mengmeng Zhao & Yangwu Ren & Li Shen & Yue Zhang & Baosen Zhou, 2014. "Association between MTHFR C677T and A1298C Polymorphisms and NSCL/P Risk in Asians: A Meta-Analysis," PLOS ONE, Public Library of Science, vol. 9(3), pages 1-7, March.
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