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Variants in maternal COMT and MTHFR genes and risk of neural tube defects in offspring

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An Erratum to this article was published on 28 August 2014

Abstract

Methylenetetrahydrofolate reductase (MTHFR) C677T and catechol-O-Methyltransferase (COMT) G158A are associated with a risk of neural tube defects (NTDs) in offspring. This study examined the effect of a MTHFR × COMT interaction on the risk of NTDs in a Chinese population with a high prevalence of NTDs. A total of 576 fetuses or newborns with NTDs and 594 controls were genotyped for MTHFRrs1801133, MTHFRrs1801131, and COMTrs4680 and COMTrs737865. Information on maternal sociodemographic characteristics, reproductive history, and related behavior was collected through face-to-face interviews. Possible interactions between genetic variants of MTHFR and COMT were examined. MTHFR C677T homozygous TT was associated with an elevated risk of total NTDs (odds ratio [OR] = 1.37, 95 % confidence interval [CI] = 0.93–2.03) and of anencephaly (OR = 1.67, 95 % CI = 0.98–2.84) compared with the CC genotype. There was a COMT rs737865 CC × MTHFR rs1801133 TT interaction for total NTDs (OR = 3.02, 95 % CI = 1.00–9.14) and for anencephaly (OR = 3.39, 95 % CI = 0.94–12.18). No interaction was found between COMT rs4680 AA/AG and MTHFR CT/TT genotypes for total NTDs or any subtype of NTD. The interaction of COMT rs737865 and MTHFR C677T was associated with an increased risk of NTDs, especially anencephaly, in a Chinese population with a high prevalence of NTDs.

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Acknowledgments

This work was supported in part by the National Natural Science Foundation of China (Grant Nos. 81202265; 31371523).

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Authors and Affiliations

  1. Institute of Reproductive and Child Health/Ministry of Health Key Laboratory of Reproductive Health; Department of Epidemiology and Biostatistics, School of Public Health, Peking University, 38 College Rd, Haidian District, Beijing, 100191, China

    Jufen Liu, Yali Zhang, Lei Jin, Linlin Wang, Yunting Fu, Zhiwen Li, Le Zhang, Rongwei Ye & Aiguo Ren

  2. Department of Occupational and Environmental Health, School of Public Health, Peking University, Beijing, 100191, China

    Guoxing Li

  3. National Institute on Drug Dependence, Peking University, Beijing, 100191, China

    Yanping Bao

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  1. Jufen Liu
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  2. Yali Zhang
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  3. Lei Jin
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  4. Guoxing Li
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  5. Linlin Wang
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  6. Yanping Bao
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  7. Yunting Fu
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  8. Zhiwen Li
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  9. Le Zhang
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  10. Rongwei Ye
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  11. Aiguo Ren
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Correspondence to Aiguo Ren.

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Liu, J., Zhang, Y., Jin, L. et al. Variants in maternal COMT and MTHFR genes and risk of neural tube defects in offspring. Metab Brain Dis 30, 507–513 (2015). https://doi.org/10.1007/s11011-014-9582-8

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  • DOI: https://doi.org/10.1007/s11011-014-9582-8

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