Neural Tube Defects and Folate Pathway Genes
Author Information
Author(s): Boyles Abee L., Billups Ashley V., Deak Kristen L., Siegel Deborah G., Mehltretter Lorraine, Slifer Susan H., Bassuk Alexander G., Kessler John A., Reed Michael C., Nijhout H. Frederik, George Timothy M., Enterline David S., Gilbert John R., Speer Marcy C.
Primary Institution: Duke University Medical Center
Hypothesis
This study evaluates several folate pathway genes for association with human neural tube defects, incorporating maternal folate supplementation as an environmental cofactor.
Conclusion
The BHMT rs3733890 SNP is significantly associated with neural tube defects, particularly when mothers took folate supplements before conception.
Supporting Evidence
- Only SNPs in BHMT were significantly associated with neural tube defects.
- The significance was strongest when mothers took folate-containing nutritional supplements before conception.
- Other SNPs in folate pathway genes were marginally significant in some analyses.
- Familial studies indicate a significant genetic component to neural tube defects.
Takeaway
This study found that a specific gene variant is linked to a higher risk of birth defects when mothers take folic acid supplements before pregnancy.
Methodology
The study examined 28 polymorphisms in 11 folate pathway genes in 304 Caucasian American families with neural tube defects.
Potential Biases
Potential bias due to population stratification and reliance on self-reported maternal supplementation.
Limitations
The study's findings may not be generalizable beyond the Caucasian American population and are limited by the sample size.
Participant Demographics
Caucasian American families with at least one individual affected by neural tube defects.
Statistical Information
P-Value
p=0.007 for BHMT rs3733890 in families transmitting the MTHFR T allele.
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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