IDEAS home Printed from https://ideas.repec.org/a/plo/pone00/0108552.html
   My bibliography  Save this article

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

Author

Listed:
  • 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
    as

    Download full text from publisher

    File URL: https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0108552
    Download Restriction: no
    File URL: https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0108552&type=printable
    Download Restriction: no
    File URL: https://libkey.io/10.1371/journal.pone.0108552?utm_source=ideas
    LibKey link: if access is restricted and if your library uses this service, LibKey will redirect you to where you can use your library subscription to access this item
    ---><---

    References listed on IDEAS

    as
    1. 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.
    2. 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.
    3. 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.
    Full references (including those not matched with items on IDEAS)

    Most related items

    These are the items that most often cite the same works as this one and are cited by the same works as this one.
    1. Jianxin Jiang & Yanfei Zhang & Liang Wei & Zhiyang Sun & Zhongmin Liu, 2014. "Association between MTHFD1 G1958A Polymorphism and Neural Tube Defects Susceptibility: A Meta-Analysis," PLOS ONE, Public Library of Science, vol. 9(6), pages 1-9, June.
    2. Zhao-Feng Chen & Lufei Young & Chong Ho Yu & S. Pamela K. Shiao, 2018. "A Meta-Prediction of Methylenetetrahydrofolate-Reductase Polymorphisms and Air Pollution Increased the Risk of Ischemic Heart Diseases Worldwide," IJERPH, MDPI, vol. 15(7), pages 1-16, July.
    3. Hongtuan Zhang & Hui Ma & Liang Li & Zhihong Zhang & Yong Xu, 2013. "Association of Methylenetetrahydrofolate Dehydrogenase 1 Polymorphisms with Cancer: A Meta-Analysis," PLOS ONE, Public Library of Science, vol. 8(7), pages 1-7, July.
    4. Bingxi Cai & Ti Zhang & Rong Zhong & Li Zou & Beibei Zhu & Wei Chen & Na Shen & Juntao Ke & Jiao Lou & Zhenling Wang & Yu Sun & Lifeng Liu & Ranran Song, 2014. "Genetic Variant in MTRR, but Not MTR, Is Associated with Risk of Congenital Heart Disease: An Integrated Meta-Analysis," PLOS ONE, Public Library of Science, vol. 9(3), pages 1-7, March.
    5. Jun Jin & Wuying Li & Lingmei Peng & Jian Chen & Rong Li & Peihua Wu & Sheng Tan, 2014. "Relationship between Interleukin-10 −1082A/G Polymorphism and Risk of Ischemic Stroke: A Meta-Analysis," PLOS ONE, Public Library of Science, vol. 9(4), pages 1-10, April.

    More about this item

    Statistics

    Access and download statistics

    Corrections

    All material on this site has been provided by the respective publishers and authors. You can help correct errors and omissions. When requesting a correction, please mention this item's handle: RePEc:plo:pone00:0108552. See general information about how to correct material in RePEc.

    If you have authored this item and are not yet registered with RePEc, we encourage you to do it here. This allows to link your profile to this item. It also allows you to accept potential citations to this item that we are uncertain about.

    If CitEc recognized a bibliographic reference but did not link an item in RePEc to it, you can help with this form .

    If you know of missing items citing this one, you can help us creating those links by adding the relevant references in the same way as above, for each refering item. If you are a registered author of this item, you may also want to check the "citations" tab in your RePEc Author Service profile, as there may be some citations waiting for confirmation.

    For technical questions regarding this item, or to correct its authors, title, abstract, bibliographic or download information, contact: plosone (email available below). General contact details of provider: https://journals.plos.org/plosone/ .

    Please note that corrections may take a couple of weeks to filter through the various RePEc services.

    IDEAS is a RePEc service. RePEc uses bibliographic data supplied by the respective publishers.