IMR Press / JMCM / Volume 1 / Issue 1 / DOI: 10.31083/j.jmcm.2018.01.003
Open Access Research article
A Common Variant in MTHFD1L is Associated with Increased Risk for Spina Bifida
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1 Department of Pediatrics, The University of Texas at Austin Dell Medical School, Austin, Texas
2 Department of Molecular Biosciences, The University of Texas at Austin, Austin, Texas
3 Current Address: Center for Precision Environmental Health, Departments of Molecular and Cellular Biology and Medicine, Baylor College of Medicine, Houston, Texas (Richard H. Finnell)
J. Mol. Clin. Med. 2018, 1(1), 19–22;
Revised: 13 November 2017 | Accepted: 24 November 2017 | Published: 20 January 2018

Genetic polymorphisms within folate pathway genes represent potentially meaningful risk factors for neural tube defects (NTDs). Here we investigated the association of three previously identified polymorphisms in the folate pathway gene MTHFD1L with spina bifida in a U.S. population consisting primarily of Hispanic and non-Hispanic Caucasians. MTHFD1L allele 1 was found to significantly reduce maternal risk of having a baby with spina bifida, while allele 3 significantly increased maternal risk to have a spina bifida baby. This study confirms that rs3832406 is associated with an increased risk of spina bifida.

Neural tube defects
Genomic variants
One carbon metabolism
Fig. 1.
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