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Journal of Perinatal Medicine

Official Journal of the World Association of Perinatal Medicine

Editor-in-Chief: Dudenhausen, MD, FRCOG, Joachim W.

Ed. by Bancalari, Eduardo / Chappelle, Joseph / Chervenak, Frank A. / D'Addario , Vincenzo / Genc, Mehmet R. / Greenough, Anne / Grunebaum, Amos / Konje, Justin C. / Kurjak M.D., Asim / Romero, Roberto / Zalud, Ivica

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Volume 38, Issue 1


Role of parental folate pathway single nucleotide polymorphisms in altering the susceptibility to neural tube defects in South India

Shaik Mohammad Naushad / Akella Radha Rama Devi
Published Online: 2009-08-13 | DOI: https://doi.org/10.1515/jpm.2009.119


Aim: To investigate the role of four parental folate pathway single nucleotide polymorphisms (SNPs) i.e., methylene tetrahydrofolate reductase (MTHFR) 677C>T, MTHFR 1298A>C, methionine synthase reductase (MTRR) 66A>G and glutamate carboxypeptidase (GCP) II 1561C>T on susceptibility to neural tube defects (NTDs) in 50 couples with NTD offspring and 80 couples with normal pregnancy outcome.

Results: Maternal MTHFR 677C→T (odds ratio (OR): 2.69, 95% confidence interval (CI): 1.35–5.34) and parental GCP II 1561C→T (maternal: OR: 1.89, 95% CI: 1.12–3.21 and paternal: OR: 3.23, 95% CI: 1.76–5.93) were found to be risk factors for a NTD. Both paternal and maternal GCP II T-variant alleles were found to interact with MTHFR 677T- and MTRR G-variant alleles in increasing the risk for NTD. Segregation of data based on type of defect revealed an association between maternal 677T-allele and meningomyelocele (OR: 9.00, 95% CI: 3.77–21.55, P<0.0001) and an association between parental GCP II 1561T-allele and anencephaly (maternal: OR: 2.25, 95% CI: 1.12–4.50, P<0.05 and paternal: OR: 4.26, 95% CI: 2.01–9.09, P<0.001).

Conclusions: Maternal MTHFR C677T and parental GCP II C1561T polymorphisms are associated with increased risk for NTDs. Apart from individual genetic effects, epistatic interactions were also observed.

Keywords: Glutamate carboxypeptidase (GCP) II; methionine synthase reductase (MTRR); methylene tetrahydrofolate reductase (MTHFR); neural tube defects (NTDS)

About the article

Corresponding author: S.M. Naushad Division of Diagnostic Center for DNA Fingerprinting and Diagnostics (CDFD) Laboratory block Tuljaguda Nampally Hyderabad-500001 India Tel.: +91-40-24749338, Ext: 1103 Fax: +91-40-24749448

Received: 2009-03-24

Revised: 2009-05-01

Accepted: 2009-06-02

Published Online: 2009-08-13

Published Online: 2009-08-13

Published in Print: 2010-01-01

Citation Information: Journal of Perinatal Medicine, Volume 38, Issue 1, Pages 63–69, ISSN (Online) 1619-3997, ISSN (Print) 0300-5577, DOI: https://doi.org/10.1515/jpm.2009.119.

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